ID SCN1A_HUMAN Reviewed; 2009 AA. AC P35498; E9PG49; Q16172; Q585T7; Q8IUJ6; Q96LA3; Q9C008; DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot. DT 08-DEC-2000, sequence version 2. DT 02-SEP-2026, entry version 245. DE RecName: Full=Sodium channel protein type 1 subunit alpha; DE AltName: Full=Sodium channel protein brain I subunit alpha; DE AltName: Full=Sodium channel protein type I subunit alpha; DE AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.1; GN Name=SCN1A {ECO:0000312|HGNC:HGNC:10585}; Synonyms=NAC1, SCN1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GEFSP2 MET-875 AND RP HIS-1648. RX PubMed=10742094; DOI=10.1038/74159; RA Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., RA An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., RA Malafosse A.; RT "Mutations of SCN1A, encoding a neuronal sodium channel, in two families RT with GEFS+2."; RL Nat. Genet. 24:343-345(2000). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RA Jeong S.-Y., Goto J., Kanazawa I.; RT "Cloning of cDNA for human voltage-gated sodium channel alpha subunit, RT SCN1A."; RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RC TISSUE=Brain; RA Sugawara T., Mazaki E.M., Yamakawa K.; RT "Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1) mRNA."; RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067, AND RP ALTERNATIVE SPLICING. RC TISSUE=Brain; RA Ouchida M., Ohmori I.; RT "Isoforms of human sodium channel SCN1A gene."; RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428. RX PubMed=8062593; DOI=10.1159/000133818; RA Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N., Li X., RA Jabs E.W., Korenberg J.R., Ingram V.M.; RT "Localization of a putative human brain sodium channel gene (SCN1A) to RT chromosome band 2q24."; RL Cytogenet. Cell Genet. 67:178-186(1994). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940. RC TISSUE=Brain; RX PubMed=1317301; DOI=10.1016/0014-5793(92)80476-w; RA Lu C.-M., Han J., Rado T.A., Brown G.B.; RT "Differential expression of two sodium channel subtypes in human brain."; RL FEBS Lett. 303:53-58(1992). RN [8] RP INTERACTION WITH FGF13. RX PubMed=21566136; DOI=10.1074/jbc.m111.245803; RA Wang C., Wang C., Hoch E.G., Pitt G.S.; RT "Identification of novel interaction sites that determine specificity RT between fibroblast growth factor homologous factors and voltage-gated RT sodium channels."; RL J. Biol. Chem. 286:24253-24263(2011). RN [9] RP ACTIVITY REGULATION. RX PubMed=24497506; DOI=10.1073/pnas.1324189111; RA Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R., RA Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M., RA Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G., Wickenden A.D., RA Olivera B.M., Yoshikami D., Zhang M.M.; RT "A disulfide tether stabilizes the block of sodium channels by the RT conotoxin muO[section sign]-GVIIJ."; RL Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014). RN [10] RP ACTIVITY REGULATION, AND SITE SER-1574. RX PubMed=28428547; DOI=10.1038/s41598-017-01129-0; RA Wingerd J.S., Mozar C.A., Ussing C.A., Murali S.S., Chin Y.K., RA Cristofori-Armstrong B., Durek T., Gilchrist J., Vaughan C.W., Bosmans F., RA Adams D.J., Lewis R.J., Alewood P.F., Mobli M., Christie M.J., Rash L.D.; RT "The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the RT S1-S2 voltage-sensor region for sodium channel subtype selectivity."; RL Sci. Rep. 7:974-988(2017). RN [11] RP INTERACTION WITH TMEM233. RX PubMed=37117223; DOI=10.1038/s41467-023-37963-2; RA Jami S., Deuis J.R., Klasfauseweh T., Cheng X., Kurdyukov S., Chung F., RA Okorokov A.L., Li S., Zhang J., Cristofori-Armstrong B., Israel M.R., RA Ju R.J., Robinson S.D., Zhao P., Ragnarsson L., Andersson A., Tran P., RA Schendel V., McMahon K.L., Tran H.N.T., Chin Y.K., Zhu Y., Liu J., RA Crawford T., Purushothamvasan S., Habib A.M., Andersson D.A., Rash L.D., RA Wood J.N., Zhao J., Stehbens S.J., Mobli M., Leffler A., Jiang D., RA Cox J.J., Waxman S.G., Dib-Hajj S.D., Gregory Neely G., Durek T., RA Vetter I.; RT "Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 RT function."; RL Nat. Commun. 14:2442-2442(2023). RN [12] {ECO:0007744|PDB:7DTD} RP STRUCTURE BY ELECTRON MICROSCOPY (3.30 ANGSTROMS) IN COMPLEX WITH SCN4B, RP TOPOLOGY, DISULFIDE BONDS, GLYCOSYLATION AT ASN-338; ASN-1378; ASN-1392 AND RP ASN-1403, CHARACTERIZATION OF VARIANT DRVT VAL-1339 AND ARG-1658, AND RP CHARACTERIZATION OF VARIANT FMH3 LEU-1499. RX PubMed=33712547; DOI=10.1073/pnas.2100066118; RA Pan X., Li Z., Jin X., Zhao Y., Huang G., Huang X., Shen Z., Cao Y., RA Dong M., Lei J., Yan N.; RT "Comparative structural analysis of human Nav1.1 and Nav1.5 reveals RT mutational hotspots for sodium channelopathies."; RL Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021). RN [13] RP VARIANTS GEFSP2 VAL-188; LEU-1353 AND MET-1656, AND VARIANTS THR-1067 AND RP GLY-1928. RX PubMed=11254444; DOI=10.1086/319516; RA Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., RA Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., RA Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., RA George A.L. Jr., Mulley J.C., Berkovic S.F.; RT "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy RT with febrile seizures plus."; RL Am. J. Hum. Genet. 68:859-865(2001). RN [14] RP VARIANT GEFSP2 ARG-1204. RX PubMed=11254445; DOI=10.1086/319524; RA Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H.; RT "A novel SCN1A mutation associated with generalized epilepsy with febrile RT seizures plus -- and prevalence of variants in patients with epilepsy."; RL Am. J. Hum. Genet. 68:866-873(2001). RN [15] RP VARIANTS DRVT 222-ARG--LYS-2009 DEL AND PHE-986. RX PubMed=11359211; DOI=10.1086/320609; RA Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., RA De Jonghe P.; RT "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic RT epilepsy of infancy."; RL Am. J. Hum. Genet. 68:1327-1332(2001). RN [16] RP VARIANTS GEFSP2 ALA-1428 AND VAL-1685. RX PubMed=11524484; DOI=10.1212/wnl.57.4.703; RA Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., RA Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K.; RT "Na(v)1.1 mutations cause febrile seizures associated with afebrile partial RT seizures."; RL Neurology 57:703-705(2001). RN [17] RP VARIANT GEFSP2 THR-1270. RX PubMed=11756608; DOI=10.1212/wnl.57.12.2265; RA Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., RA Haines J.L., Sutcliffe J.S., George A.L. Jr.; RT "Partial and generalized epilepsy with febrile seizures plus and a novel RT SCN1A mutation."; RL Neurology 57:2265-2272(2001). RN [18] RP VARIANTS DRVT CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434; RP ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, AND VARIANT THR-1067. RX PubMed=12083760; DOI=10.1016/s0006-291x(02)00617-4; RA Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.; RT "Significant correlation of the SCN1A mutations and severe myoclonic RT epilepsy in infancy."; RL Biochem. Biophys. Res. Commun. 295:17-23(2002). RN [19] RP VARIANTS DRVT GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985; RP ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND RP SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; RP SER-1632; ILE-1709 AND LEU-1808, AND VARIANT THR-1067. RX PubMed=12566275; DOI=10.1093/brain/awg053; RA Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., RA Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y.; RT "Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable RT childhood epilepsies with frequent generalized tonic-clonic seizures."; RL Brain 126:531-546(2003). RN [20] RP VARIANTS GEFSP2 CYS-790 AND THR-1852. RX PubMed=12919402; DOI=10.1046/j.1528-1157.2003.22503.x; RA Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A., RA Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P., RA Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P., RA LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A.; RT "Two novel SCN1A missense mutations in generalized epilepsy with febrile RT seizures plus."; RL Epilepsia 44:1257-1258(2003). RN [21] RP VARIANT GEFSP2 VAL-188. RX PubMed=12576172; DOI=10.1016/s0920-1211(02)00259-0; RA Cossette P., Loukas A., Lafreniere R.G., Rochefort D., Harvey-Girard E., RA Ragsdale D.S., Dunn R.J., Rouleau G.A.; RT "Functional characterization of the D188V mutation in neuronal voltage- RT gated sodium channel causing generalized epilepsy with febrile seizures RT plus (GEFS)."; RL Epilepsy Res. 53:107-117(2003). RN [22] RP VARIANTS DRVT HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749. RX PubMed=12754708; DOI=10.1002/humu.10217; RA Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A., Del-Favero J., RA Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., RA Wolf N.I., Van Broeckhoven C., De Jonghe P.; RT "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of RT infancy."; RL Hum. Mutat. 21:615-621(2003). RN [23] RP VARIANT GEFSP2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFSP2 LEU-1353; RP MET-1656; CYS-1657 AND VAL-1685, CHARACTERIZATION OF VARIANT DRVT PHE-986, RP FUNCTION, TRANSPORTER ACTIVITY, AND SUBCELLULAR LOCATION. RX PubMed=14672992; DOI=10.1523/jneurosci.23-36-11289.2003; RA Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., RA Devinsky O., George A.L. Jr.; RT "Epilepsy-associated dysfunction in the voltage-gated neuronal sodium RT channel SCN1A."; RL J. Neurosci. 23:11289-11295(2003). RN [24] RP VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955. RX PubMed=12610651; DOI=10.1038/sj.mp.4001241; RA Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., RA Reichert J., Buxbaum J.D., Meisler M.H.; RT "Sodium channels SCN1A, SCN2A and SCN3A in familial autism."; RL Mol. Psychiatry 8:186-194(2003). RN [25] RP VARIANTS DRVT ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; RP ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 RP DELINS CYS. RX PubMed=12821740; DOI=10.1212/01.wnl.0000069463.41870.2f; RA Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., RA Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., RA Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L., RA Matricardi A., Romeo A., Tzolas V., Valseriati D., Veggiotti P., RA Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F.; RT "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy."; RL Neurology 60:1961-1967(2003). RN [26] RP VARIANTS DRVT PRO-1326 AND ASP-1881, AND VARIANT INFANTILE SPASMS GLY-1957. RX PubMed=14504318; DOI=10.1212/01.wnl.0000086379.71183.78; RA Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., RA Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., RA Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E.; RT "Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of RT infancy and infantile spasms."; RL Neurology 61:765-769(2003). RN [27] RP CHARACTERIZATION OF VARIANT GEFSP2 ARG-1204. RX PubMed=12535936; DOI=10.1016/s0306-4522(02)00698-x; RA Spampanato J., Escayg A., Meisler M.H., Goldin A.L.; RT "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R RT alters voltage-dependent gating of Na(v)1.1 sodium channels."; RL Neuroscience 116:37-48(2003). RN [28] RP VARIANTS DRVT GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946; RP PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781. RX PubMed=14738421; DOI=10.1111/j.0013-9580.2004.15103.x; RA Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S., RA Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M., Muranaka H., RA Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S.; RT "Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A RT in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI RT (SMEB)."; RL Epilepsia 45:140-148(2004). RN [29] RP VARIANT GEFSP2 TYR-1866, CHARACTERIZATION OF VARIANT GEFSP2 TYR-1866, AND RP INTERACTION WITH SCN1B. RX PubMed=15525788; DOI=10.1523/jneurosci.2034-04.2004; RA Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I., RA MacDonald B.T., Levin S.I., Soltesz I., Benna P., Montalenti E., Isom L.L., RA Goldin A.L., Meisler M.H.; RT "A novel epilepsy mutation in the sodium channel SCN1A identifies a RT cytoplasmic domain for beta subunit interaction."; RL J. Neurosci. 24:10022-10034(2004). RN [30] RP VARIANT DRVT ASN-252. RX PubMed=15087100; DOI=10.1016/j.pediatrneurol.2003.10.012; RA Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G.; RT "Clinical correlations of mutations in the SCN1A gene: from febrile RT seizures to severe myoclonic epilepsy in infancy."; RL Pediatr. Neurol. 30:236-243(2004). RN [31] RP VARIANT DRVT ASN-1713, AND VARIANT THR-1067. RX PubMed=16122630; DOI=10.1016/j.braindev.2004.11.005; RA Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y., RA Tateno A., Hachimori K., Yamakawa K., Segawa M.; RT "A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in RT infancy (SMEI) inherited from a father with febrile seizures."; RL Brain Dev. 27:424-430(2005). RN [32] RP VARIANT GEFSP2 LEU-1857. RX PubMed=15715999; DOI=10.1016/j.eplepsyres.2004.11.005; RA Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T., RA Yamakawa K.; RT "A family of generalized epilepsy with febrile seizures plus type 2-a new RT missense mutation of SCN1A found in the pedigree of several patients with RT complex febrile seizures."; RL Epilepsy Res. 63:151-156(2005). RN [33] RP VARIANTS ICEGTC SER-808 AND ILE-1011, AND CHARACTERIZATION OF VARIANTS RP ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632; ILE-1709 RP AND LEU-1808. RX PubMed=16210358; DOI=10.1113/jphysiol.2005.094326; RA Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K., RA George A.L. Jr.; RT "Sodium channel dysfunction in intractable childhood epilepsy with RT generalized tonic-clonic seizures."; RL J. Physiol. (Lond.) 569:433-445(2005). RN [34] RP VARIANT FHM3 LYS-1489. RX PubMed=16054936; DOI=10.1016/s0140-6736(05)66786-4; RA Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., RA Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M., RA Strom T.M.; RT "Mutation in the neuronal voltage-gated sodium channel SCN1A in familial RT hemiplegic migraine."; RL Lancet 366:371-377(2005). RN [35] RP VARIANT DRVT SER-946. RX PubMed=15944908; DOI=10.1055/s-2005-865607; RA Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B., RA Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U., Neubauer B.A.; RT "SCN1A mutation analysis in myoclonic astatic epilepsy and severe RT idiopathic generalized epilepsy of infancy with generalized tonic-clonic RT seizures."; RL Neuropediatrics 36:210-213(2005). RN [36] RP VARIANT FEB3A THR-145, AND CHARACTERIZATION OF VARIANT FEB3A THR-145. RX PubMed=16326807; DOI=10.1073/pnas.0506818102; RA Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F., RA Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P., RA Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A.; RT "Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function RT mutation associated with familial simple febrile seizures."; RL Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005). RN [37] RP VARIANT GEFSP2 GLY-1742. RX PubMed=15694566; DOI=10.1016/j.seizure.2004.12.007; RA Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C., RA Cabrera D., Bedoya G., Ruiz-Linares A.; RT "A novel SCN1A mutation associated with severe GEFS+ in a large South RT American pedigree."; RL Seizure 14:123-128(2005). RN [38] RP VARIANT DRVT PRO-1393. RX PubMed=17129991; DOI=10.1080/08035250600778628; RA Stefanaki E., Aggelakou V., Orfanou M., Kokori E., Boutoufianakis S.; RT "Epilepsy with a de novo missense mutation in the sodium channel a1 RT subunit: a case report."; RL Acta Paediatr. 95:1703-1706(2006). RN [39] RP VARIANTS DRVT ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280; LEU-383; RP CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942; ARG-1233; GLN-1245; RP CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475; ALA-1668; ARG-1714; RP GLU-1762; PHE-1773 AND THR-1780. RX PubMed=17054684; DOI=10.1111/j.1528-1167.2006.00641.x; RA Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R., RA Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A., Capovilla G., RA Darra F., Elia M., Freri E., Gobbi G., Granata T., Guerrini R., RA Pantaleoni C., Parmeggiani A., Romeo A., Santucci M., Vecchi M., RA Veggiotti P., Vigevano F., Pistorio A., Gaggero R., Zara F.; RT "Familial occurrence of febrile seizures and epilepsy in severe myoclonic RT epilepsy of infancy (SMEI) patients with SCN1A mutations."; RL Epilepsia 47:1629-1635(2006). RN [40] RP CHARACTERIZATION OF VARIANTS DRVT GLU-177; SER-227; HIS-393; ASN-426; RP GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909. RX PubMed=17054685; DOI=10.1111/j.1528-1167.2006.00643.x; RA Ohmori I., Kahlig K.M., Rhodes T.H., Wang D.W., George A.L. Jr.; RT "Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy."; RL Epilepsia 47:1636-1642(2006). RN [41] RP VARIANT GEFSP2 CYS-859, AND CHARACTERIZATION OF VARIANT GEFSP2 CYS-859. RX PubMed=16525050; DOI=10.1523/jneurosci.2977-05.2006; RA Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A., Helmers S.L., RA Goldin A.L., Escayg A.; RT "An epilepsy mutation in the sodium channel SCN1A that decreases channel RT excitability."; RL J. Neurosci. 26:2714-2723(2006). RN [42] RP VARIANTS DRVT LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND GLN-1645. RX PubMed=16713920; DOI=10.1016/s1474-4422(06)70446-x; RA Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M., RA Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E.; RT "De-novo mutations of the sodium channel gene SCN1A in alleged vaccine RT encephalopathy: a retrospective study."; RL Lancet Neurol. 5:488-492(2006). RN [43] RP VARIANT DRVT THR-1231. RX PubMed=16458823; DOI=10.1016/j.pediatrneurol.2005.07.009; RA Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., RA Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D., RA Meisler M.H., Escayg A.; RT "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of RT infancy."; RL Pediatr. Neurol. 34:116-120(2006). RN [44] RP VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-1480; SER-1543; GLN-1636 RP AND HIS-1657, VARIANTS DRVT HIS-79; CYS-84; TRP-101; ARG-199; THR-239; RP LEU-403; ASN-413; GLY-674; PRO-783; GLU-944; LEU-945; GLU-950; ASP-1238; RP MET-1390; GLY-1396; PRO-1441; VAL-1545; CYS-1596; GLN-1645; VAL-1707; RP ARG-1721 AND THR-1922, VARIANT GEFSP2 VAL-973, AND VARIANT DEE6B MET-226. RX PubMed=17347258; DOI=10.1093/brain/awm002; RG The infantile epileptic encephalopathy referral consortium; RA Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., RA Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., RA Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., RA Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., RA Scheffer I.E.; RT "The spectrum of SCN1A-related infantile epileptic encephalopathies."; RL Brain 130:843-852(2007). RN [45] RP VARIANTS DRVT GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393; RP LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658; RP ARG-1716; VAL-1783 AND LYS-1787, AND VARIANTS GEFSP2 PRO-74; ARG-1204 AND RP SER-1687. RX PubMed=17561957; DOI=10.1111/j.1528-1167.2007.01122.x; RA Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C., Dias A.I., RA Moreira A., Calado E., Seri S., Neville B., Narbona J., Reid E., RA Michelucci R., Sicca F., Cross H.J., Guerrini R.; RT "Idiopathic epilepsies with seizures precipitated by fever and SCN1A RT abnormalities."; RL Epilepsia 48:1678-1685(2007). RN [46] RP VARIANT GEFSP2 ILE-1366, AND VARIANT ICEGTC ILE-1366. RX PubMed=17507202; DOI=10.1016/j.eplepsyres.2007.03.018; RA Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M., RA Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S., RA Fujiwara T., Inoue Y., Yamakawa K.; RT "Patients with a sodium channel alpha 1 gene mutation show wide phenotypic RT variation."; RL Epilepsy Res. 75:46-51(2007). RN [47] RP VARIANT FHM3 GLN-1649. RX PubMed=17397047; DOI=10.1002/humu.9486; RA Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T., RA Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M., Ferrari M.D., RA Pusch M., van den Maagdenberg A.M., Dichgans M.; RT "The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with RT familial hemiplegic migraine: genetic and functional studies. Mutation in RT brief #957. Online."; RL Hum. Mutat. 28:522-522(2007). RN [48] RP CHARACTERIZATION OF VARIANT GEFSP2 THR-1852, SUBCELLULAR LOCATION, AND RP INTERACTION WITH SCN1B. RX PubMed=17928445; DOI=10.1523/jneurosci.3515-07.2007; RA Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A., RA Franceschetti S., Annesi G., Wanke E., Mantegazza M.; RT "Modulatory proteins can rescue a trafficking defective epileptogenic RT Nav1.1 Na+ channel mutant."; RL J. Neurosci. 27:11037-11046(2007). RN [49] RP VARIANT PHE-790, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME. RX PubMed=17679682; DOI=10.1212/01.wnl.0000266666.10404.53; RA Grosso S., Orrico A., Galli L., Di Bartolo R., Sorrentino V., Balestri P.; RT "SCN1A mutation associated with atypical Panayiotopoulos syndrome."; RL Neurology 69:609-611(2007). RN [50] RP VARIANT FOCAL EPILEPSY PHE-1771. RX PubMed=18330841; DOI=10.1055/s-2008-1062703; RA Okumura A., Kurahashi H., Hirose S., Okawa N., Watanabe K.; RT "Focal epilepsy resulting from a de novo SCN1A mutation."; RL Neuropediatrics 38:253-256(2007). RN [51] RP VARIANT FHM3 SER-1174. RX PubMed=18021921; DOI=10.1016/j.pediatrneurol.2007.06.016; RA Gargus J.J., Tournay A.; RT "Novel mutation confirms seizure locus SCN1A is also familial hemiplegic RT migraine locus FHM3."; RL Pediatr. Neurol. 37:407-410(2007). RN [52] RP VARIANT GEFSP2 MET-978. RX PubMed=17927801; DOI=10.1111/j.1600-0404.2007.00941.x; RA Selmer K.K., Egeland T., Solaas M.H., Nakken K.O., Kjeldsen M.J., RA Friis M.L., Brandal K., Corey L.A., Undlien D.E.; RT "Genetic screening of Scandinavian families with febrile seizures and RT epilepsy or GEFS+."; RL Acta Neurol. Scand. 117:289-292(2008). RN [53] RP VARIANTS DRVT SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND CYS-1462, RP VARIANT GEFSP2 GLN-377, AND VARIANT GLY-1928. RX PubMed=18413471; DOI=10.1001/archneur.65.4.489; RA Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M., RA Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G., RA Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R., RA Bresolin N., Bassi M.T.; RT "Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations RT identified."; RL Arch. Neurol. 65:489-494(2008). RN [54] RP VARIANT GEFSP2 THR-1867. RX PubMed=18251839; DOI=10.1111/j.1528-1167.2007.01439_2.x; RA Hindocha N., Nashef L., Elmslie F., Birch R., Zuberi S., Al-Chalabi A., RA Crotti L., Schwartz P.J., Makoff A.; RT "Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an RT SCN1A mutation."; RL Epilepsia 49:360-365(2008). RN [55] RP VARIANT CYS-1575. RX PubMed=18031552; DOI=10.1111/j.1528-1167.2007.01411.x; RA Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T., Shimizu K., RA Matsui H., Ohtsuka Y., Maegaki Y.; RT "Rasmussen encephalitis associated with SCN 1 A mutation."; RL Epilepsia 49:521-526(2008). RN [56] RP VARIANT GEFSP2 HIS-935. RX PubMed=18566737; DOI=10.1007/s10038-008-0306-y; RA Sun H., Zhang Y., Liang J., Liu X., Ma X., Wu H., Xu K., Qin J., Qi Y., RA Wu X.; RT "SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with RT generalized epilepsy with febrile seizures plus."; RL J. Hum. Genet. 53:769-774(2008). RN [57] RP VARIANT DRVT CYS-280. RX PubMed=18639757; DOI=10.1016/j.pediatrneurol.2008.04.003; RA Miyama S., Goto T., Inoue Y., Yamakawa K.; RT "Monozygotic twins with severe myoclonic epilepsy in infancy discordant for RT clinical features."; RL Pediatr. Neurol. 39:120-122(2008). RN [58] RP VARIANT THR-1067. RX PubMed=19694741; DOI=10.1111/j.1365-2125.2009.03437.x; RA Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.; RT "Differential role of sodium channels SCN1A and SCN2A gene polymorphisms RT with epilepsy and multiple drug resistance in the north Indian RT population."; RL Br. J. Clin. Pharmacol. 68:214-220(2009). RN [59] RP VARIANT DRVT LYS-1503. RX PubMed=19783390; DOI=10.1016/j.braindev.2009.08.009; RA Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.; RT "Missense mutation of the sodium channel gene SCN2A causes Dravet RT syndrome."; RL Brain Dev. 31:758-762(2009). RN [60] RP VARIANTS GLN-542 AND PHE-790, VARIANT FEB3A ASP-1308, VARIANT DRVT RP CYS-1648, VARIANTS GEFSP2 THR-899; ILE-976; ASN-1249 AND MET-1250, AND RP POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME. RX PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x; RA Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., RA Sorrentino V.; RT "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian RT patients with idiopathic childhood epilepsies."; RL Clin. Genet. 75:579-581(2009). RN [61] RP VARIANT GEFSP2 LEU-218, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS RP SYNDROME. RX PubMed=19339291; DOI=10.1177/0883073808324537; RA Livingston J.H., Cross J.H., Mclellan A., Birch R., Zuberi S.M.; RT "A novel inherited mutation in the voltage sensor region of SCN1A is RT associated with Panayiotopoulos syndrome in siblings and generalized RT epilepsy with febrile seizures plus."; RL J. Child Neurol. 24:503-508(2009). RN [62] RP VARIANTS GLN-542; HIS-604; THR-924; ILE-1079; THR-1109; ASP-1308; CYS-1575 RP AND GLY-1928, AND VARIANTS DRVT VAL-58; PHE-61; HIS-79; GLN-101; TRP-101; RP ASN-124; ARG-171; VAL-175; LYS-191; TYR-191; GLY-194; GLU-223; SER-227; RP SER-232; TYR-243; ARG-277; LEU-281; SER-281; ILE-322; PHE-340; ASP-343; RP ARG-345; ASP-355; ILE-357; GLN-378; CYS-393; MET-400 DEL; CYS-426; PHE-525; RP GLY-626; ARG-843; CYS-859; LYS-875; LEU-896; PHE-927; CYS-931; ILE-934; RP PRO-939; ASN-943; SER-949; TYR-949; LYS-973; PRO-986; GLY-998; LYS-1068; RP GLY-1239; TYR-1239; ASP-1255; VAL-1275; SER-1284; PHE-1289 DEL; SER-1316; RP PRO-1328; LYS-1367; SER-1391; GLY-1416; ILE-1431; MET-1437; PHE-1473 DEL; RP ILE-1483 DEL; GLY-1484; ILE-1538; ALA-1544; LYS-1561; GLU-1579; GLU-1586; RP CYS-1596; LEU-1596; ILE-1612; GLY-1639; HIS-1648; ARG-1658; MET-1658; RP LYS-1664; ARG-1675; PHE-1677; LYS-1714; CYS-1725; ASN-1771; THR-1780; RP HIS-1781; MET-1782; SER-1782; THR-1783; VAL-1783; LYS-1788; ILE-1808; RP SER-1812; 1813-GLU--PHE-1815 DEL AND PHE-1835. RX PubMed=18930999; DOI=10.1136/jmg.2008.062323; RA Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I., RA Bouteiller D., Carpentier W., Keren B., Abert B., Gautier A., Baulac S., RA Arzimanoglou A., Cazeneuve C., Nabbout R., LeGuern E.; RT "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis RT of 333 patients."; RL J. Med. Genet. 46:183-191(2009). RN [63] RP VARIANTS FHM3 HIS-1489 AND LEU-1499. RX PubMed=19332696; DOI=10.1212/01.wnl.0000345393.53132.8c; RA Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P., Trouillard O., RA Gaudric A., Morris M.A., LeGuern E., Tournier-Lasserve E., Bousser M.-G.; RT "Elicited repetitive daily blindness: a new phenotype associated with RT hemiplegic migraine and SCN1A mutations."; RL Neurology 72:1178-1183(2009). RN [64] RP VARIANT GEFSP2 HIS-388. RX PubMed=19464195; DOI=10.1016/j.seizure.2009.04.009; RA Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S., RA Merner N., Hodgkinson K., Young T.L.; RT "Variable neurologic phenotype in a GEFS+ family with a novel mutation in RT SCN1A."; RL Seizure 18:492-497(2009). RN [65] RP VARIANT THR-1067. RX PubMed=20682179; DOI=10.1016/j.arcmed.2010.04.007; RA Ebrahimi A., Houshmand M., Tonekaboni S.H., Fallah Mahboob Passand M.S., RA Zainali S., Moghadasi M.; RT "Two novel mutations in SCN1A gene in Iranian patients with epilepsy."; RL Arch. Med. Res. 41:207-214(2010). RN [66] RP VARIANTS GEFSP2 HIS-946 AND LEU-1765, AND CHARACTERIZATION OF VARIANTS RP GEFSP2 HIS-946 AND LEU-1765. RX PubMed=20550552; DOI=10.1111/j.1528-1167.2010.02645.x; RA Liao W.P., Shi Y.W., Long Y.S., Zeng Y., Li T., Yu M.J., Su T., Deng P., RA Lei Z.G., Xu S.J., Deng W.Y., Liu X.R., Sun W.W., Yi Y.H., Xu Z.C., RA Duan S.; RT "Partial epilepsy with antecedent febrile seizures and seizure aggravation RT by antiepileptic drugs: associated with loss of function of Na(v) 1.1."; RL Epilepsia 51:1669-1678(2010). RN [67] RP VARIANTS DRVT ILE-1612 AND GLY-1756. RX PubMed=20452746; DOI=10.1016/j.eplepsyres.2010.04.003; RA Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y., RA Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H.; RT "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical RT manifestations and SCN1A mutations in Indonesian patients."; RL Epilepsy Res. 90:132-139(2010). RN [68] RP VARIANT GLU-1637. RX PubMed=20392657; DOI=10.1016/j.ejpn.2010.03.002; RA Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M., RA Birch R., Zuberi S.M., Lerman-Sagie T.; RT "Hepatic coma culminating in severe brain damage in a child with a SCN1A RT mutation."; RL Eur. J. Paediatr. Neurol. 14:456-459(2010). RN [69] RP VARIANTS DRVT GLN-862 AND LYS-954. RX PubMed=20110217; DOI=10.1177/0883073809357241; RA Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F., RA Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C., RA Korkmaz B., Tuysuz B., Gunel M.; RT "Four novel SCN1A mutations in Turkish patients with severe myoclonic RT epilepsy of infancy (SMEI)."; RL J. Child Neurol. 25:1265-1268(2010). RN [70] RP VARIANT GEFSP2 THR-27, VARIANTS DRVT LEU-63; VAL-239 AND ARG-1433, AND RP VARIANT ASP-1308. RX PubMed=20729507; DOI=10.1177/0883073810365737; RA Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E., RA Zara F., Iannetti P.; RT "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian RT patients with GEFS+ spectrum (seizures plus, classical and borderline RT severe myoclonic epilepsy of infancy)."; RL J. Child Neurol. 25:1369-1376(2010). RN [71] RP VARIANTS DRVT SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259; HIS-393; RP TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335; MET-1390; RP GLU-1433; GLU-1586 AND THR-1783. RX PubMed=20431604; DOI=10.1038/jhg.2010.39; RA Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y., Wu X.; RT "Analysis of SCN1A mutation and parental origin in patients with Dravet RT syndrome."; RL J. Hum. Genet. 55:421-427(2010). RN [72] RP VARIANTS DRVT CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227; PHE-406; RP ASN-413; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950; GLY-1396; LYS-1450; RP VAL-1545; GLN-1645; ARG-1726 AND THR-1783, AND VARIANTS HIS-604; GLN-1636 RP AND HIS-1657. RX PubMed=19589774; DOI=10.1136/jmg.2008.065912; RA Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R., McMahon J.M., RA Bruce C.M., Berkovic S.F., Mulley J.C.; RT "De novo SCN1A mutations in Dravet syndrome and related epileptic RT encephalopathies are largely of paternal origin."; RL J. Med. Genet. 47:137-141(2010). RN [73] RP VARIANTS DRVT ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514; HIS-1648; RP MET-1658; LYS-1664 AND MET-1782. RX PubMed=20522430; DOI=10.1136/jmg.2009.074328; RA Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C., RA Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A., RA Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C., RA Dupont S., Baulac S., Heron D., Nabbout R., Leguern E.; RT "Mechanisms for variable expressivity of inherited SCN1A mutations causing RT Dravet syndrome."; RL J. Med. Genet. 47:404-410(2010). RN [74] RP VARIANT GEFSP2 LYS-1795. RX PubMed=20600615; DOI=10.1016/j.neulet.2010.06.040; RA Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S.; RT "Novel mutation of SCN1A in familial generalized epilepsy with febrile RT seizures plus."; RL Neurosci. Lett. 480:211-214(2010). RN [75] RP VARIANTS DRVT ILE-1612 AND GLY-1756. RX PubMed=19563458; DOI=10.1111/j.1442-200x.2009.02916.x; RA Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S., RA Patria S.Y., Matsuo M., Lindhout D., Nishio H.; RT "Novel SCN1A mutations in Indonesian patients with severe myoclonic RT epilepsy in infancy."; RL Pediatr. Int. 52:234-239(2010). RN [76] RP VARIANT GEFSP2 PHE-1309. RX PubMed=20117752; DOI=10.1016/j.pediatrneurol.2009.09.007; RA Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I.; RT "Generalized epilepsy with febrile seizures plus: novel SCN1A mutation."; RL Pediatr. Neurol. 42:137-140(2010). RN [77] RP VARIANTS DRVT LYS-226; HIS-931; ALA-1266; HIS-1462; THR-1523; THR-1638 AND RP GLU-1880. RX PubMed=21719429; DOI=10.1093/brain/awr129; RA Catarino C.B., Liu J.Y., Liagkouras I., Gibbons V.S., Labrum R.W., RA Ellis R., Woodward C., Davis M.B., Smith S.J., Cross J.H., Appleton R.E., RA Yendle S.C., McMahon J.M., Bellows S.T., Jacques T.S., Zuberi S.M., RA Koepp M.J., Martinian L., Scheffer I.E., Thom M., Sisodiya S.M.; RT "Dravet syndrome as epileptic encephalopathy: evidence from long-term RT course and neuropathology."; RL Brain 134:2982-3010(2011). RN [78] RP VARIANT DRVT GLU-1669. RX PubMed=21555645; DOI=10.1001/archneurol.2011.98; RA Freilich E.R., Jones J.M., Gaillard W.D., Conry J.A., Tsuchida T.N., RA Reyes C., Dib-Hajj S., Waxman S.G., Meisler M.H., Pearl P.L.; RT "Novel SCN1A mutation in a proband with malignant migrating partial RT seizures of infancy."; RL Arch. Neurol. 68:665-671(2011). RN [79] RP VARIANT GEFSP2 HIS-859, VARIANT DRVT GLY-865, CHARACTERIZATION OF VARIANT RP GEFSP2 HIS-859, AND CHARACTERIZATION OF VARIANTS DRVT GLY-865; CYS-946 AND RP HIS-946. RX PubMed=21864321; DOI=10.1111/j.1460-9568.2011.07826.x; RA Volkers L., Kahlig K.M., Verbeek N.E., Das J.H., van Kempen M.J., RA Stroink H., Augustijn P., van Nieuwenhuizen O., Lindhout D., RA George A.L. Jr., Koeleman B.P., Rook M.B.; RT "Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or RT Dravet syndrome."; RL Eur. J. Neurosci. 34:1268-1275(2011). RN [80] RP VARIANTS DRVT PHE-17 DEL; THR-68; ASN-79; CYS-84; PRO-98; GLN-101; TRP-101; RP ARG-108; ASP-127; ARG-199; SER-227; THR-227; SER-232; ARG-233; VAL-342; RP ASP-343; TRP-351; SER-359; ARG-363; ARG-384; CYS-393; HIS-393; VAL-400; RP VAL-403; PHE-406; GLY-626; ASP-762; THR-785; ILE-812; ARG-842; RP 854-GLY-LEU-855 DEL; CYS-859; GLN-862; PRO-890; CYS-932; PRO-933; CYS-946; RP HIS-946; ARG-950; LYS-954; LYS-956; LEU-957; ILE-976; VAL-979; ARG-993; RP 999-ASN-LEU-1000 DELINS LEU-ILE-SER; LYS-1208; LYS-1221; PHE-1230; RP ASP-1238; ALA-1266; ASN-1288; VAL-1320; PRO-1326; GLY-1350; ARG-1358; RP PRO-1370; HIS-1378; THR-1378; ILE-1394; TYR-1396; SER-1417; PHE-1423; RP ALA-1429 DEL; VAL-1433; LYS-1450; SER-1451; LYS-1454; HIS-1462; LYS-1476; RP LYS-1503; GLY-1544; GLU-1586; ARG-1588; HIS-1592; PRO-1592; SER-1605; RP GLU-1637; THR-1638; CYS-1648; GLU-1653; PRO-1660; PRO-1667; LEU-1668; RP ILE-1672; THR-1673; THR-1683; ASP-1684; TRP-1688; ARG-1714; ASN-1763; RP ASN-1770; PHE-1770; THR-1770; THR-1780; VAL-1783; LYS-1787; PRO-1832; RP LYS-1852; LEU-1855; GLU-1880; THR-1909 DEL AND ARG-1927 DELINS ILE-ILE-GLN, RP VARIANTS GEFSP2 LEU-218; ILE-254; GLY-291; THR-960; VAL-973; SER-1204; RP PHE-1230; ASP-1414; HIS-1596; LEU-1739 AND THR-1867, AND VARIANTS ASN-45; RP VAL-333; ASN-382; HIS-604; ILE-699; THR-924; HIS-931; GLU-1006; ILE-1079; RP THR-1109; ASP-1308; ASP-1326; MET-1483 AND PHE-1683. RX PubMed=21248271; DOI=10.1212/wnl.0b013e31820c309b; RA Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J., Forbes G.H.; RT "Genotype-phenotype associations in SCN1A-related epilepsies."; RL Neurology 76:594-600(2011). RN [81] RP VARIANT DRVT GLY-862. RX PubMed=21753172; DOI=10.1212/wnl.0b013e318227046d; RA Carranza Rojo D., Hamiwka L., McMahon J.M., Dibbens L.M., Arsov T., RA Suls A., Stoedberg T., Kelley K., Wirrell E., Appleton B., Mackay M., RA Freeman J.L., Yendle S.C., Berkovic S.F., Bienvenu T., De Jonghe P., RA Thorburn D.R., Mulley J.C., Mefford H.C., Scheffer I.E.; RT "De novo SCN1A mutations in migrating partial seizures of infancy."; RL Neurology 77:380-383(2011). RN [82] RP VARIANTS DRVT VAL-1339 AND LEU-1630. RX PubMed=22092154; DOI=10.1111/j.1528-1167.2011.03311.x; RA Okumura A., Uematsu M., Imataka G., Tanaka M., Okanishi T., Kubota T., RA Sudo A., Tohyama J., Tsuji M., Ohmori I., Naiki M., Hiraiwa-Sofue A., RA Sato H., Saitoh S., Shimizu T.; RT "Acute encephalopathy in children with Dravet syndrome."; RL Epilepsia 53:79-86(2012). RN [83] RP VARIANTS LEU-982; CYS-1575 AND LEU-1977. RX PubMed=22309220; DOI=10.1111/j.1528-1167.2011.03402.x; RA Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K., Takanashi J.L., RA Hwang S.K., Hirose S., Mizuguchi M.; RT "Mutations of the SCN1A gene in acute encephalopathy."; RL Epilepsia 53:558-564(2012). RN [84] RP VARIANTS DRVT VAL-289; ARG-379 AND HIS-393. RX PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x; RA Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C., RA Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S., RA Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M., Klopstock T., RA Prott E.C., Lorenz R., Spaich C., Rona S., Lakshminarasimhan M., Kroell J., RA Dorn T., Kraemer G., Synofzik M., Becker F., Weber Y.G., Lerche H., RA Boehm D., Biskup S.; RT "Targeted next generation sequencing as a diagnostic tool in epileptic RT disorders."; RL Epilepsia 53:1387-1398(2012). RN [85] RP VARIANTS DRVT CYS-84; GLN-101; TRP-101; ILE-105; ARG-179; ARG-190; ARG-226; RP SER-227; ARG-259; ARG-280; ALA-281; PRO-363; ARG-384; HIS-393; TRP-409; RP CYS-426; MET-875; ILE-876; PHE-896; ILE-934; PHE-940; CYS-946; HIS-946; RP LEU-987; GLY-1316; VAL-1339; MET-1344; PRO-1355; VAL-1385; GLY-1418; RP PRO-1427; CYS-1453; HIS-1462; SER-1472; TYR-1485; GLU-1503 DEL; LYS-1503; RP VAL-1545; ARG-1555; GLY-1608; LEU-1630; ASN-1638; SER-1642; VAL-1662; RP PRO-1667; PHE-1677; THR-1683; SER-1692; CYS-1694; GLY-1727; ARG-1741; RP PHE-1766 DEL; PHE-1771; THR-1783; VAL-1783 AND THR-1792, VARIANTS RP ICEGTC SER-90; GLN-101; SER-178; MET-252; ARG-290; HIS-393; ILE-896; RP ALA-944; GLN-1213; CYS-1254; THR-1325; PRO-1328; LEU-1357; ARG-1376; RP ASP-1429; HIS-1462; LYS-1511; VAL-1619; SER-1684; PRO-1724; CYS-1781 AND RP TRP-1861, AND VARIANTS GLN-542 AND CYS-1575. RX PubMed=23195492; DOI=10.1016/j.eplepsyres.2012.06.006; RA Wang J.W., Shi X.Y., Kurahashi H., Hwang S.K., Ishii A., Higurashi N., RA Kaneko S., Hirose S.; RT "Prevalence of SCN1A mutations in children with suspected Dravet syndrome RT and intractable childhood epilepsy."; RL Epilepsy Res. 102:195-200(2012). RN [86] RP VARIANTS DRVT ASN-194 AND ASP-1238. RX PubMed=23662938; DOI=10.1111/epi.12203; RA Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G., Tohyama J., RA Nakamura K., Nakagawa E., Ikeda T., Ben-Zeev B., Lev D., Lerman-Sagie T., RA Straussberg R., Tanabe S., Ueda K., Amamoto M., Ohta S., Nonoda Y., RA Nishiyama K., Tsurusaki Y., Nakashima M., Miyake N., Hayasaka K., RA King M.C., Matsumoto N., Saitsu H.; RT "Targeted capture and sequencing for detection of mutations causing early RT onset epileptic encephalopathy."; RL Epilepsia 54:1262-1269(2013). RN [87] RP VARIANT ALA-1275. RX PubMed=23647072; DOI=10.1111/epi.12201; RA Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R., RA Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T., Weinert S., RA Jentsch T.J., Pazzi M., Restifo L.L., Talwar D., Erickson R.P., RA Hammer M.F.; RT "Exome sequencing reveals new causal mutations in children with epileptic RT encephalopathies."; RL Epilepsia 54:1270-1281(2013). RN [88] RP VARIANTS ASN-45 AND TRP-1988, AND VARIANT ICEGTC SER-359. RX PubMed=23708187; DOI=10.1038/ng.2646; RA Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J., Cook J., RA Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S., Wallace G., RA Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S., Mackay M.T., RA Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z., Zelnick N., RA Lerman-Sagie T., Lev D., Moeller R.S., Gill D., Andrade D.M., Freeman J.L., RA Sadleir L.G., Shendure J., Berkovic S.F., Scheffer I.E., Mefford H.C.; RT "Targeted resequencing in epileptic encephalopathies identifies de novo RT mutations in CHD2 and SYNGAP1."; RL Nat. Genet. 45:825-830(2013). RN [89] RP VARIANT DEE6B LEU-422. RX PubMed=24776920; DOI=10.1684/epd.2014.0649; RA Ohashi T., Akasaka N., Kobayashi Y., Magara S., Kawashima H., Matsumoto N., RA Saitsu H., Tohyama J.; RT "Infantile epileptic encephalopathy with a hyperkinetic movement disorder RT and hand stereotypies associated with a novel SCN1A mutation."; RL Epileptic Disord. 16:208-212(2014). RN [90] RP VARIANTS DRVT THR-113; 450-GLN--LYS-2009 DEL AND ARG-1588. RX PubMed=25818041; DOI=10.1111/epi.12954; RA Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D., RA Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A., Moharir M., RA Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III; RT "Diagnostic yield of genetic testing in epileptic encephalopathy in RT childhood."; RL Epilepsia 56:707-716(2015). RN [91] RP VARIANTS LEU-982; CYS-1575 AND SER-1674. RX PubMed=26311622; DOI=10.1016/j.eplepsyres.2015.08.001; RA Saitoh M., Ishii A., Ihara Y., Hoshino A., Terashima H., Kubota M., RA Kikuchi K., Yamanaka G., Amemiya K., Hirose S., Mizuguchi M.; RT "Missense mutations in sodium channel SCN1A and SCN2A predispose children RT to encephalopathy with severe febrile seizures."; RL Epilepsy Res. 117:1-6(2015). RN [92] RP VARIANT VAL-1440. RX PubMed=26637798; DOI=10.1016/j.neuron.2015.11.009; RA D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T., RA Sestan N., Walsh C.A.; RT "Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates RT Multiple Genetic Mechanisms."; RL Neuron 88:910-917(2015). RN [93] RP VARIANTS DRVT GLN-101; 1284-TRP--LYS-2009 DEL AND LEU-1345. RX PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263; RA Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A., RA Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L., Kurian M.A., RA Scott R.H.; RT "Improving diagnosis and broadening the phenotypes in early-onset seizure RT and severe developmental delay disorders through gene panel analysis."; RL J. Med. Genet. 53:310-317(2016). RN [94] RP VARIANT DRVT HIS-393. RX PubMed=28544625; DOI=10.1002/ajmg.a.38282; RA Le S.V., Le P.H.T., Le T.K.V., Kieu Huynh T.T., Hang Do T.T.; RT "A mutation in GABRB3 associated with Dravet syndrome."; RL Am. J. Med. Genet. A 173:2126-2131(2017). RN [95] RP VARIANTS DRVT ARG-190; PRO-228; ILE-1605 AND GLN-1645, AND VARIANT ASP-616. RX PubMed=27864847; DOI=10.1002/humu.23149; RG Clinical Study Group; RA Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D., RA Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D., Bigoni S., RA Barba C., Mari F., Montomoli M., Pisano T., Rosati A., Guerrini R.; RT "Diagnostic targeted resequencing in 349 patients with drug-resistant RT pediatric epilepsies identifies causative mutations in 30 different RT genes."; RL Hum. Mutat. 38:216-225(2017). RN [96] RP INVOLVEMENT IN DEE6B, AND VARIANTS DEE6B MET-226 AND SER-1345. RX PubMed=28794249; DOI=10.1212/wnl.0000000000004331; RG DDD Study; RA Sadleir L.G., Mountier E.I., Gill D., Davis S., Joshi C., DeVile C., RA Kurian M.A., Mandelstam S., Wirrell E., Nickels K.C., Murali H.R., RA Carvill G., Myers C.T., Mefford H.C., Scheffer I.E.; RT "Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early RT profound Thr226Met phenotype."; RL Neurology 89:1035-1042(2017). RN [97] RP VARIANT GLN-187. RX PubMed=30500825; DOI=10.1371/journal.pgen.1007671; RA Hiatt S.M., Neu M.B., Ramaker R.C., Hardigan A.A., Prokop J.W., RA Hancarova M., Prchalova D., Havlovicova M., Prchal J., Stranecky V., RA Yim D.K.C., Powis Z., Keren B., Nava C., Mignot C., Rio M., RA Revah-Politi A., Hemati P., Stong N., Iglesias A.D., Suchy S.F., RA Willaert R., Wentzensen I.M., Wheeler P.G., Brick L., Kozenko M., RA Hurst A.C.E., Wheless J.W., Lacassie Y., Myers R.M., Barsh G.S., RA Sedlacek Z., Cooper G.M.; RT "De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small RT GTPase, cause intellectual disability and developmental delay."; RL PLoS Genet. 14:e1007671-e1007671(2018). RN [98] RP VARIANT SER-541. RX PubMed=36977636; DOI=10.1093/cercor/bhad051; RA Knierim E., Vogt J., Kintscher M., Ponomarenko A., Baumgart J., Beed P., RA Korotkova T., Trimbuch T., Panzer A., Steinlein O.K., Stephani U., RA Escayg A., Koko M., Liu Y., Lerche H., Schmitz D., Nitsch R., Schuelke M.; RT "Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to RT hippocampal seizure susceptibility and modify epileptic phenotype."; RL Cereb. Cortex 0:0-0(2023). RN [99] RP VARIANT CYS-1596, AND CHARACTERIZATION OF VARIANT CYS-1596. RX PubMed=38339022; DOI=10.3390/ijms25031745; RA Witkowski G., Szulczyk B., Nurowska E., Jurek M., Pasierski M., Lipiec A., RA Charzewska A., Dawidziuk M., Milewski M., Owsiak S., Rola R., RA Sienkiewicz Jarosz H., Hoffman-Zacharska D.; RT "Functional characteristics of the Nav1.1 p.Arg1596Cys mutation associated RT with varying severity of epilepsy phenotypes."; RL Int. J. Mol. Sci. 25:0-0(2024). CC -!- FUNCTION: Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) CC channel that directly mediates the depolarizing phase of action CC potentials in excitable membranes. Navs, also called VGSCs (voltage- CC gated sodium channels) or VDSCs (voltage-dependent sodium channels), CC operate by switching between closed and open conformations depending on CC the voltage difference across the membrane. In the open conformation CC they allow Na(+) ions to selectively pass through the pore, along their CC electrochemical gradient. The influx of Na(+) ions provokes membrane CC depolarization, initiating the propagation of electrical signals CC throughout cells and tissues (PubMed:14672992). By regulating the CC excitability of neurons, ensures that they respond appropriately to CC synaptic inputs, maintaining the balance between excitation and CC inhibition in brain neural circuits (By similarity). Nav1.1 plays a CC role in controlling the excitability and action potential propagation CC from somatosensory neurons, thereby contributing to the sensory CC perception of mechanically-induced pain (By similarity). CC {ECO:0000250|UniProtKB:A2APX8, ECO:0000269|PubMed:14672992}. CC -!- CATALYTIC ACTIVITY: CC Reaction=Na(+)(in) = Na(+)(out); Xref=Rhea:RHEA:34963, CC ChEBI:CHEBI:29101; Evidence={ECO:0000269|PubMed:14672992}; CC -!- ACTIVITY REGULATION: Activated by the spider toxins Hm1a and Hm1b CC (H.maculata, AC P60992 and AC P0DOC5) eliciting acute pain and CC mechanical allodynia (By similarity). Inhibited by the conotoxin GVIIJ CC (PubMed:24497506). Inhibited by the spider beta/delta-theraphotoxin- CC Pre1a (PubMed:28428547). {ECO:0000250|UniProtKB:A2APX8, CC ECO:0000269|PubMed:24497506, ECO:0000269|PubMed:28428547}. CC -!- SUBUNIT: The Nav1.1 voltage-gated sodium channel consists of an ion- CC conducting alpha subunit SCN1A which is functional on its own regulated CC by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and beta- CC 4 (SCN4B) subunits (PubMed:15525788, PubMed:33712547). SCN1B and SCN3B CC are non-covalently associated with SCN1A. SCN2B and SCN4B are CC disulfide-linked to SCN1A (PubMed:33712547). SCN1B regulates both the CC expression at the plasma membrane and the voltage dependence of Nav1.1 CC inactivation (PubMed:15525788, PubMed:17928445). SCN3B and SCN4B reduce CC Nav1.1 conductance (PubMed:33712547). Probably interacts with TMEM233; CC modulates the gating properties of NaV1.1 (Probable). Interacts with CC FGF13; regulates the steady-state inactivation of Nav.1.1 CC (PubMed:21566136). {ECO:0000269|PubMed:15525788, CC ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:21566136, CC ECO:0000269|PubMed:33712547, ECO:0000305|PubMed:37117223}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14672992, CC ECO:0000269|PubMed:17928445}; Multi-pass membrane protein CC {ECO:0000269|PubMed:33712547}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=P35498-1; Sequence=Displayed; CC Name=2; CC IsoId=P35498-2; Sequence=VSP_001031; CC Name=3; CC IsoId=P35498-3; Sequence=VSP_045399; CC -!- DOMAIN: The sequence contains 4 internal repeats, each with 5 CC hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged CC segment (S4). Segments S4 are probably the voltage-sensors and are CC characterized by a series of positively charged amino acids at every CC third position. {ECO:0000305}. CC -!- DOMAIN: The S3b-S4 and S1-S2 loops of repeat IV are targeted by CC H.maculata toxins Hm1a and Hm1b, leading to inhibit fast inactivation CC of Nav1.1/SCN1A. Selectivity for H.maculata toxins Hm1a and Hm1b CC depends on S1-S2 loops of repeat IV. {ECO:0000250|UniProtKB:A2APX8}. CC -!- PTM: Phosphorylation at Ser-1516 by PKC in a highly conserved CC cytoplasmic loop slows inactivation of the sodium channel and reduces CC peak sodium currents. {ECO:0000250|UniProtKB:P04775}. CC -!- DISEASE: Generalized epilepsy with febrile seizures plus 2 (GEFSP2) CC [MIM:604403]: A rare autosomal dominant, familial condition with CC incomplete penetrance and large intrafamilial variability. Patients CC display febrile seizures persisting sometimes beyond the age of 6 years CC and/or a variety of afebrile seizure types. This disease combines CC febrile seizures, generalized seizures often precipitated by fever at CC age 6 years or more, and partial seizures, with a variable degree of CC severity. {ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444, CC ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484, CC ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936, CC ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402, CC ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788, CC ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999, CC ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258, CC ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957, CC ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445, CC ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471, CC ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291, CC ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081, CC ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552, CC ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507, CC ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Dravet syndrome (DRVT) [MIM:607208]: A severe form of CC epileptic encephalopathy characterized by generalized tonic, clonic, CC and tonic-clonic seizures that are initially induced by fever and begin CC during the first year of life. Later, patients also manifest other CC seizure types, including absence, myoclonic, and simple and complex CC partial seizures. Psychomotor development delay is observed around the CC second year of life. Some patients manifest a borderline disease CC phenotype and do not necessarily fulfill all diagnostic criteria for CC core DRVT. DRVT is considered to be the most severe phenotype within CC the spectrum of generalized epilepsies with febrile seizures-plus. CC {ECO:0000269|PubMed:11359211, ECO:0000269|PubMed:12083760, CC ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:12754708, CC ECO:0000269|PubMed:12821740, ECO:0000269|PubMed:14504318, CC ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:14738421, CC ECO:0000269|PubMed:15087100, ECO:0000269|PubMed:15944908, CC ECO:0000269|PubMed:16122630, ECO:0000269|PubMed:16458823, CC ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:17054684, CC ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17129991, CC ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957, CC ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18639757, CC ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081, CC ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:19589774, CC ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:20110217, CC ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:20452746, CC ECO:0000269|PubMed:20522430, ECO:0000269|PubMed:20729507, CC ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21555645, CC ECO:0000269|PubMed:21719429, ECO:0000269|PubMed:21753172, CC ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:22092154, CC ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492, CC ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, CC ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, CC ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28544625, CC ECO:0000269|PubMed:33712547}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Intractable childhood epilepsy with generalized tonic-clonic CC seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized CC tonic-clonic seizures beginning usually in infancy and induced by CC fever. Seizures are associated with subsequent mental decline, as well CC as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the CC absence of myoclonic seizures. {ECO:0000269|PubMed:12566275, CC ECO:0000269|PubMed:16210358, ECO:0000269|PubMed:17507202, CC ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23708187}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A CC subtype of migraine associated with transient blindness in some CC families. Migraine is a disabling symptom complex of periodic CC headaches, usually temporal and unilateral. Headaches are often CC accompanied by irritability, nausea, vomiting and photophobia, preceded CC by constriction of the cranial arteries. The two major subtypes are CC common migraine (migraine without aura) and classic migraine (migraine CC with aura). Classic migraine is characterized by recurrent attacks of CC reversible neurological symptoms (aura) that precede or accompany the CC headache. Aura may include a combination of sensory disturbances, such CC as blurred vision, hallucinations, vertigo, numbness and difficulty in CC concentrating and speaking. {ECO:0000269|PubMed:16054936, CC ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921, CC ECO:0000269|PubMed:19332696, ECO:0000269|PubMed:33712547}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures CC associated with febrile episodes in childhood without any evidence of CC intracranial infection or defined pathologic or traumatic cause. It is CC a common condition, affecting 2-5% of children aged 3 months to 5 CC years. The majority are simple febrile seizures (generally defined as CC generalized onset, single seizures with a duration of less than 30 CC minutes). Complex febrile seizures are characterized by focal onset, CC duration greater than 30 minutes, and/or more than one seizure in a 24 CC hour period. The likelihood of developing epilepsy following simple CC febrile seizures is low. Complex febrile seizures are associated with a CC moderately increased incidence of epilepsy. CC {ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Developmental and epileptic encephalopathy 6B (DEE6B) CC [MIM:619317]: A form of epileptic encephalopathy, a heterogeneous group CC of severe early-onset epilepsies characterized by refractory seizures, CC neurodevelopmental impairment, and poor prognosis. Development is CC normal prior to seizure onset, after which cognitive and motor delays CC become apparent. DEE6B is an autosomal dominant condition characterized CC by onset of seizures in early infancy, profoundly impaired intellectual CC development, and a hyperkinetic movement disorder. CC {ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:24776920, CC ECO:0000269|PubMed:28794249}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos CC syndrome, a benign age-related focal seizure disorder occurring in CC early and mid-childhood. It is characterized by seizures, often CC prolonged, with predominantly autonomic symptoms, and by an CC electroencephalogram that shows shifting and/or multiple foci, often CC with occipital predominance. Autonomic seizures in Panayiotopoulos CC syndrome consist of episodes of disturbed autonomic function with CC emesis as the predominant symptom. Cardiorespiratory arrest is CC exceptional. {ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291, CC ECO:0000269|PubMed:19522081}. CC -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family. CC Nav1.1/SCN1A subfamily. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF225985; AAK00217.1; -; mRNA. DR EMBL; AY043484; AAK95360.1; -; mRNA. DR EMBL; AB093548; BAC21101.1; -; mRNA. DR EMBL; AB093549; BAC21102.1; -; mRNA. DR EMBL; AB098335; BAC45228.1; -; mRNA. DR EMBL; AC010127; AAX81984.1; -; Genomic_DNA. DR EMBL; S71446; AAB31605.1; -; Genomic_DNA. DR EMBL; X65362; CAA46439.1; -; mRNA. DR EMBL; M91803; -; NOT_ANNOTATED_CDS; mRNA. DR CCDS; CCDS33316.1; -. [P35498-2] DR CCDS; CCDS54413.1; -. [P35498-1] DR CCDS; CCDS54414.1; -. [P35498-3] DR PIR; I52964; I52964. DR PIR; S29184; S29184. DR RefSeq; NP_001159435.1; NM_001165963.4. [P35498-1] DR RefSeq; NP_001159436.1; NM_001165964.3. [P35498-3] DR RefSeq; NP_001189364.1; NM_001202435.3. [P35498-1] DR RefSeq; NP_001340877.1; NM_001353948.2. [P35498-1] DR RefSeq; NP_001340878.1; NM_001353949.2. [P35498-2] DR RefSeq; NP_001340879.1; NM_001353950.2. [P35498-2] DR RefSeq; NP_001340880.1; NM_001353951.2. [P35498-2] DR RefSeq; NP_001340881.1; NM_001353952.2. [P35498-2] DR RefSeq; NP_001340886.1; NM_001353957.2. [P35498-3] DR RefSeq; NP_001340887.1; NM_001353958.2. [P35498-3] DR RefSeq; NP_008851.3; NM_006920.6. [P35498-2] DR PDB; 7DTD; EM; 3.30 A; A=1-2009. DR AlphaFoldDB; P35498; -. DR EMDB; EMD-30851; -. DR SMR; P35498; -. DR BioGRID; 112228; 25. DR ComplexPortal; CPX-8639; Nav1.1 voltage-gated sodium channel complex, SCN1B-SCN2B variant. DR ComplexPortal; CPX-8640; Nav1.1 voltage-gated sodium channel complex, SCN2B-SCN3B variant. DR ComplexPortal; CPX-8641; Nav1.1 voltage-gated sodium channel complex, SCN1B-SCN4B variant. DR ComplexPortal; CPX-8642; Nav1.1 voltage-gated sodium channel complex, SCN3B-SCN4B variant. DR DIP; DIP-59851N; -. DR FunCoup; P35498; 1049. DR IntAct; P35498; 6. DR MINT; P35498; -. DR NDEx; IQUERY-CP-SCN1A; 3 NDEx IQuery Curated Pathways. DR STRING; 9606.ENSP00000303540; -. DR BindingDB; P35498; -. DR ChEMBL; CHEMBL1845; -. DR DrugBank; DB09088; Amylocaine. DR DrugBank; DB09009; Articaine. DR DrugBank; DB13746; Bioallethrin. DR DrugBank; DB05541; Brivaracetam. DR DrugBank; DB00564; Carbamazepine. DR DrugBank; DB06119; Cenobamate. DR DrugBank; DB01161; Chloroprocaine. DR DrugBank; DB00907; Cocaine. DR DrugBank; DB13269; Dichlorobenzyl alcohol. DR DrugBank; DB09119; Eslicarbazepine acetate. DR DrugBank; DB13961; Fish oil. DR DrugBank; DB00555; Lamotrigine. DR DrugBank; DB01595; Nitrazepam. DR DrugBank; DB00776; Oxcarbazepine. DR DrugBank; DB11186; Pentoxyverine. DR DrugBank; DB04930; Permethrin. DR DrugBank; DB01121; Phenacemide. DR DrugBank; DB01438; Phenazopyridine. DR DrugBank; DB00252; Phenytoin. DR DrugBank; DB09345; Pramocaine. DR DrugBank; DB01069; Promethazine. DR DrugBank; DB09342; Propoxycaine. DR DrugBank; DB00243; Ranolazine. DR DrugBank; DB09085; Tetracaine. DR DrugBank; DB05232; Tetrodotoxin. DR DrugBank; DB00273; Topiramate. DR DrugBank; DB00313; Valproic acid. DR DrugBank; DB00909; Zonisamide. DR DrugBank; DB16912; Zorevunersen. DR DrugCentral; P35498; -. DR GuidetoPHARMACOLOGY; 578; -. DR TCDB; 1.A.1.10.7; the voltage-gated ion channel (vic) superfamily. DR GlyCosmos; P35498; 9 sites, No reported glycans. DR GlyGen; P35498; 10 sites, 1 O-linked glycan (1 site). DR iPTMnet; P35498; -. DR PhosphoSitePlus; P35498; -. DR SwissPalm; P35498; -. DR BioMuta; SCN1A; -. DR DMDM; 12644229; -. DR jPOST; P35498; -. DR MassIVE; P35498; -. DR PaxDb; 9606-ENSP00000303540; -. DR PeptideAtlas; P35498; -. DR ProteomicsDB; 20245; -. DR ProteomicsDB; 55069; -. [P35498-1] DR ProteomicsDB; 55070; -. [P35498-2] DR ABCD; P35498; 3 sequenced antibodies. DR Antibodypedia; 47608; 225 antibodies from 33 providers. DR DNASU; 6323; -. DR Ensembl; ENST00000303395.9; ENSP00000303540.4; ENSG00000144285.24. [P35498-1] DR Ensembl; ENST00000375405.7; ENSP00000364554.3; ENSG00000144285.24. [P35498-2] DR Ensembl; ENST00000409050.2; ENSP00000386312.1; ENSG00000144285.24. [P35498-3] DR Ensembl; ENST00000635750.1; ENSP00000490799.1; ENSG00000144285.24. [P35498-2] DR Ensembl; ENST00000637988.1; ENSP00000490780.1; ENSG00000144285.24. [P35498-2] DR Ensembl; ENST00000674923.1; ENSP00000501589.1; ENSG00000144285.24. [P35498-1] DR GeneID; 6323; -. DR KEGG; hsa:6323; -. DR MANE-Select; ENST00000674923.1; ENSP00000501589.1; NM_001165963.4; NP_001159435.1. DR UCSC; uc061pes.1; human. [P35498-1] DR AGR; HGNC:10585; -. DR ClinPGx; PA301; -. DR CTD; 6323; -. DR DisGeNET; 6323; -. DR GeneCards; SCN1A; -. DR GeneReviews; SCN1A; -. DR HGNC; HGNC:10585; SCN1A. DR HPA; ENSG00000144285; Tissue enhanced (brain, retina). DR MalaCards; SCN1A; -. DR MIM; 182389; gene. DR MIM; 604403; phenotype. DR MIM; 607208; phenotype. DR MIM; 609634; phenotype. DR MIM; 619317; phenotype. DR OpenTargets; ENSG00000144285; -. DR Orphanet; 33069; Dravet syndrome. DR Orphanet; 293181; Epilepsy of infancy with migrating focal seizures. DR Orphanet; 1942; Epilepsy with myoclonic-atonic seizures. DR Orphanet; 569; Familial or sporadic hemiplegic migraine. DR Orphanet; 36387; Genetic epilepsy with febrile seizure plus. DR Orphanet; 2382; Lennox-Gastaut syndrome. DR Orphanet; 442835; Non-specific early-onset epileptic encephalopathy. DR VEuPathDB; HostDB:ENSG00000144285; -. DR eggNOG; KOG2301; Eukaryota. DR GeneTree; ENSGT00940000154224; -. DR HOGENOM; CLU_000540_5_0_1; -. DR InParanoid; P35498; -. DR OMA; KTELTMS; -. DR OrthoDB; 2984333at2759; -. DR PAN-GO; P35498; 4 GO annotations based on evolutionary models. DR PhylomeDB; P35498; -. DR PathwayCommons; P35498; -. DR Reactome; R-HSA-445095; Interaction between L1 and Ankyrins. DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation. DR SignaLink; P35498; -. DR SIGNOR; P35498; -. DR Agora; ENSG00000144285; -. DR BioGRID-ORCS; 6323; 9 hits in 1153 CRISPR screens. DR ChiTaRS; SCN1A; human. DR GeneWiki; Nav1.1; -. DR GenomeRNAi; 6323; -. DR Pharos; P35498; Tclin. DR PRO; PR:P35498; -. DR Proteomes; UP000005640; Chromosome 2. DR RNAct; P35498; protein. DR Bgee; ENSG00000144285; Expressed in Brodmann (1909) area 23 and 114 other cell types or tissues. DR ExpressionAtlas; P35498; baseline and differential. DR GO; GO:0043194; C:axon initial segment; IEA:Ensembl. DR GO; GO:0014704; C:intercalated disc; IEA:Ensembl. DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl. DR GO; GO:0033268; C:node of Ranvier; IEA:Ensembl. DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB. DR GO; GO:0030315; C:T-tubule; IEA:Ensembl. DR GO; GO:0001518; C:voltage-gated sodium channel complex; IBA:GO_Central. DR GO; GO:0030018; C:Z disc; ISS:BHF-UCL. DR GO; GO:0099508; F:voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential; IDA:SynGO. DR GO; GO:0005248; F:voltage-gated sodium channel activity; IMP:UniProtKB. DR GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. DR GO; GO:0050966; P:detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB. DR GO; GO:0086010; P:membrane depolarization during action potential; IMP:UniProtKB. DR GO; GO:0035725; P:sodium ion transmembrane transport; IBA:GO_Central. DR GO; GO:0006814; P:sodium ion transport; NAS:UniProtKB. DR CDD; cd13433; Na_channel_gate; 1. DR FunFam; 1.10.238.10:FF:000002; Sodium channel protein; 1. DR FunFam; 1.10.287.70:FF:000001; Sodium channel protein; 1. DR FunFam; 1.10.287.70:FF:000006; Sodium channel protein; 1. DR FunFam; 1.20.120.350:FF:000002; Sodium channel protein; 1. DR FunFam; 1.20.120.350:FF:000004; Sodium channel protein; 1. DR FunFam; 1.20.120.350:FF:000005; Sodium channel protein; 1. DR FunFam; 1.20.5.1190:FF:000001; Sodium channel protein; 1. DR FunFam; 1.20.120.350:FF:000003; Voltage-dependent sodium channel; 1. DR Gene3D; 1.10.287.70; -; 4. DR Gene3D; 1.10.238.10; EF-hand; 1. DR Gene3D; 1.20.5.1190; iswi atpase; 1. DR Gene3D; 1.20.120.350; Voltage-gated potassium channels. Chain C; 4. DR InterPro; IPR005821; Ion_trans_dom. DR InterPro; IPR058542; IQ_SCN5A_C. DR InterPro; IPR008051; Na_channel_a1su. DR InterPro; IPR001696; Na_channel_asu. DR InterPro; IPR044564; Na_chnl_inactivation_gate. DR InterPro; IPR010526; Na_trans_assoc_dom. DR InterPro; IPR024583; Na_trans_cytopl. DR InterPro; IPR043203; VGCC_Ca_Na. DR InterPro; IPR027359; Volt_channel_dom_sf. DR PANTHER; PTHR10037:SF280; SODIUM CHANNEL PROTEIN TYPE 1 SUBUNIT ALPHA; 1. DR PANTHER; PTHR10037; VOLTAGE-GATED CATION CHANNEL CALCIUM AND SODIUM; 1. DR Pfam; PF00520; Ion_trans; 4. DR Pfam; PF24609; IQ_SCN5A_C; 1. DR Pfam; PF06512; Na_trans_assoc; 1. DR Pfam; PF11933; Na_trans_cytopl; 1. DR PRINTS; PR00170; NACHANNEL. DR PRINTS; PR01664; NACHANNEL1. DR SUPFAM; SSF81324; Voltage-gated potassium channels; 4. DR PDBsum; 7DTD; -. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Autism; Autism spectrum disorder; KW Cell membrane; Disease variant; Disulfide bond; Epilepsy; Glycoprotein; KW Ion channel; Ion transport; Membrane; Phosphoprotein; KW Proteomics identification; Reference proteome; Repeat; Sodium; KW Sodium channel; Sodium transport; Transmembrane; Transmembrane helix; KW Transport; Voltage-gated channel. FT CHAIN 1..2009 FT /note="Sodium channel protein type 1 subunit alpha" FT /id="PRO_0000048489" FT TOPO_DOM 1..128 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 129..146 FT /note="Helical; Name=S1 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 147..152 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 153..177 FT /note="Helical; Name=S2 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 178..188 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 189..205 FT /note="Helical; Name=S3 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 206..213 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 214..235 FT /note="Helical; Name=S4 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 236..245 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 246..269 FT /note="Helical; Name=S5 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 270..369 FT /note="Extracellular" FT /evidence="ECO:0000305" FT INTRAMEM 370..384 FT /note="Pore-forming" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 385..397 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 398..423 FT /note="Helical; Name=S6 of repeat I" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 424..768 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 769..787 FT /note="Helical; Name=S1 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 788..797 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 798..820 FT /note="Helical; Name=S2 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 821..830 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 831..849 FT /note="Helical; Name=S3 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 850..854 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 855..874 FT /note="Helical; Name=S4 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 875..891 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 892..912 FT /note="Helical; Name=S5 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 913..938 FT /note="Extracellular" FT /evidence="ECO:0000305" FT INTRAMEM 939..952 FT /note="Pore-forming" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 953..965 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 966..992 FT /note="Helical; Name=S6 of repeat II" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 993..1218 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1219..1237 FT /note="Helical; Name=S1 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1238..1250 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1251..1276 FT /note="Helical; Name=S2 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1277..1278 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1279..1304 FT /note="Helical; Name=S3 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1305..1313 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1314..1332 FT /note="Helical; Name=S4 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1333..1345 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1346..1369 FT /note="Helical; Name=S5 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1370..1415 FT /note="Extracellular" FT /evidence="ECO:0000305" FT INTRAMEM 1416..1433 FT /note="Pore-forming" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1434..1457 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1458..1483 FT /note="Helical; Name=S6 of repeat III" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1484..1541 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1542..1560 FT /note="Helical; Name=S1 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1561..1571 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1572..1593 FT /note="Helical; Name=S2 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1594..1601 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1602..1623 FT /note="Helical; Name=S3 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1624..1636 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1637..1655 FT /note="Helical; Name=S4 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1656..1665 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 1666..1688 FT /note="Helical; Name=S5 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1689..1711 FT /note="Extracellular" FT /evidence="ECO:0000305" FT INTRAMEM 1712..1726 FT /note="Pore-forming" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1727..1759 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 1760..1788 FT /note="Helical; Name=S6 of repeat IV" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT TOPO_DOM 1789..2009 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT REPEAT 110..454 FT /note="I" FT /evidence="ECO:0000305" FT REPEAT 750..1022 FT /note="II" FT /evidence="ECO:0000305" FT REPEAT 1200..1514 FT /note="III" FT /evidence="ECO:0000305" FT REPEAT 1523..1821 FT /note="IV" FT /evidence="ECO:0000305" FT DOMAIN 1915..1944 FT /note="IQ" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116" FT REGION 28..60 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 455..529 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 584..627 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1129..1163 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1561..1571 FT /note="S1-S2 loop of repeat IV" FT /evidence="ECO:0000250|UniProtKB:A2APX8" FT REGION 1619..1636 FT /note="S3b-S4 loop of repeat IV" FT /evidence="ECO:0000250|UniProtKB:A2APX8" FT REGION 1986..2009 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 28..48 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 456..466 FT /note="Low complexity" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 479..492 FT /note="Low complexity" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 495..506 FT /note="Basic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 520..529 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 593..607 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1988..2009 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT SITE 1574 FT /note="Key residue that permits the spider beta/delta- FT theraphotoxin-Pre1a to inhibit fast inactivation of the FT channel" FT /evidence="ECO:0000269|PubMed:28428547" FT MOD_RES 470 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 523 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 525 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 550 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 551 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:A2APX8" FT MOD_RES 607 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 730 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P04774" FT MOD_RES 1516 FT /note="Phosphoserine; by PKC" FT /evidence="ECO:0000250|UniProtKB:P04775" FT CARBOHYD 211 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 284 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 295 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 301 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 306 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 338 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT CARBOHYD 1378 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT CARBOHYD 1392 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT CARBOHYD 1403 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 277..345 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 336..351 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 919 FT /note="Interchain; with SCN2B or SCN4B" FT /evidence="ECO:0000305|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 919 FT /note="Interchain; with the conotoxin GVIIJ (when the FT channel is not linked to SCN2B or SCN4B; the bond to SCN2B FT or SCN4B protects the channel from the inhibition by FT toxin)" FT /evidence="ECO:0000250|UniProtKB:P04775" FT DISULFID 921..927 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 959..968 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 1376..1396 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT DISULFID 1741..1756 FT /evidence="ECO:0000269|PubMed:33712547, FT ECO:0007744|PDB:7DTD" FT VAR_SEQ 654..681 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|Ref.4" FT /id="VSP_045399" FT VAR_SEQ 671..681 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|Ref.2, ECO:0000303|Ref.3, FT ECO:0000303|Ref.4" FT /id="VSP_001031" FT VARIANT 17 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073441" FT VARIANT 27 FT /note="R -> T (in GEFSP2; likely benign; FT dbSNP:rs121917906)" FT /evidence="ECO:0000269|PubMed:20729507" FT /id="VAR_064229" FT VARIANT 45 FT /note="D -> N (found in patients with different types of FT epilepsy; uncertain significance; dbSNP:rs531894715)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23708187" FT /id="VAR_073442" FT VARIANT 58 FT /note="G -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073443" FT VARIANT 61 FT /note="L -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073444" FT VARIANT 63 FT /note="F -> L (in DRVT; uncertain significance; FT dbSNP:rs121917907)" FT /evidence="ECO:0000269|PubMed:20729507" FT /id="VAR_064230" FT VARIANT 68 FT /note="I -> T (in DRVT; uncertain significance; borderline FT phenotype; dbSNP:rs758871507)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073445" FT VARIANT 74 FT /note="S -> P (in GEFSP2; uncertain significance; FT dbSNP:rs121917931)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064295" FT VARIANT 78 FT /note="E -> D (in DRVT; dbSNP:rs121917933)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684" FT /id="VAR_029660" FT VARIANT 79 FT /note="D -> H (in DRVT; borderline phenotype; FT dbSNP:rs121917982)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:18930999" FT /id="VAR_064346" FT VARIANT 79 FT /note="D -> N (in DRVT; dbSNP:rs121917982)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073446" FT VARIANT 84 FT /note="Y -> C (in DRVT; dbSNP:rs121917964)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:27864847" FT /id="VAR_043349" FT VARIANT 90 FT /note="F -> S (in DRVT and ICEGTC; dbSNP:rs121918733)" FT /evidence="ECO:0000269|PubMed:20431604, FT ECO:0000269|PubMed:23195492" FT /id="VAR_064231" FT VARIANT 91 FT /note="I -> T (in DRVT; dbSNP:rs121918734)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064232" FT VARIANT 98 FT /note="A -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073447" FT VARIANT 101 FT /note="R -> Q (in DRVT and ICEGTC; dbSNP:rs121917918)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:20431604, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492, FT ECO:0000269|PubMed:26993267" FT /id="VAR_029661" FT VARIANT 101 FT /note="R -> W (in DRVT; dbSNP:rs121917965)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:20431604, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492" FT /id="VAR_064233" FT VARIANT 103 FT /note="S -> G (in DRVT; dbSNP:rs121918743)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029662" FT VARIANT 105 FT /note="T -> I (in DRVT; dbSNP:rs796053089)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073448" FT VARIANT 108 FT /note="L -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073449" FT VARIANT 112 FT /note="T -> I (in DRVT; dbSNP:rs121918745)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029663" FT VARIANT 113 FT /note="P -> T (in DRVT; dbSNP:rs794726711)" FT /evidence="ECO:0000269|PubMed:25818041" FT /id="VAR_078725" FT VARIANT 118 FT /note="R -> S (in DRVT; dbSNP:rs121917959)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043350" FT VARIANT 124 FT /note="I -> N (in DRVT; dbSNP:rs121918761)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064234" FT VARIANT 127 FT /note="H -> D (in DRVT; borderline phenotype; FT dbSNP:rs148442069)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073450" FT VARIANT 145 FT /note="M -> T (in FEB3A; loss of function; FT dbSNP:rs121918631)" FT /evidence="ECO:0000269|PubMed:16326807" FT /id="VAR_025366" FT VARIANT 162 FT /note="T -> P (in DRVT; dbSNP:rs121917934)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064296" FT VARIANT 171 FT /note="I -> K (in DRVT; dbSNP:rs121918766)" FT /evidence="ECO:0000269|PubMed:19589774" FT /id="VAR_064235" FT VARIANT 171 FT /note="I -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073451" FT VARIANT 175 FT /note="A -> T (in DRVT; dbSNP:rs121918767)" FT /evidence="ECO:0000269|PubMed:19589774" FT /id="VAR_064236" FT VARIANT 175 FT /note="A -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073452" FT VARIANT 177 FT /note="G -> E (in DRVT; results in a non-functional FT channel; dbSNP:rs121918770)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054685" FT /id="VAR_029664" FT VARIANT 178 FT /note="F -> S (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073453" FT VARIANT 179 FT /note="C -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073454" FT VARIANT 187 FT /note="R -> Q (found in a child with developmental FT disabilities; uncertain significance)" FT /evidence="ECO:0000269|PubMed:30500825" FT /id="VAR_085768" FT VARIANT 188 FT /note="D -> V (in GEFSP2; dbSNP:rs121917953)" FT /evidence="ECO:0000269|PubMed:11254444, FT ECO:0000269|PubMed:12576172" FT /id="VAR_014267" FT VARIANT 190 FT /note="W -> R (in DRVT; dbSNP:rs121918773)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029665" FT VARIANT 191 FT /note="N -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073455" FT VARIANT 191 FT /note="N -> Y (in DRVT; dbSNP:rs121918762)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064237" FT VARIANT 194 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073456" FT VARIANT 194 FT /note="D -> N (in DRVT; dbSNP:rs121917935)" FT /evidence="ECO:0000269|PubMed:17054684, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:23662938, FT ECO:0000269|PubMed:27864847" FT /id="VAR_064238" FT VARIANT 199 FT /note="T -> R (in DRVT; borderline phenotype with spike FT wave activity; dbSNP:rs121917983)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064347" FT VARIANT 217 FT /note="T -> K (in DRVT; dbSNP:rs121917936)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064297" FT VARIANT 218 FT /note="F -> L (in GEFSP2; also found in patients with FT Panayiotopoulos syndrome; dbSNP:rs970867558)" FT /evidence="ECO:0000269|PubMed:19339291, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073457" FT VARIANT 222..2009 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:11359211" FT /id="VAR_085926" FT VARIANT 223 FT /note="A -> E (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073458" FT VARIANT 226 FT /note="T -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:21719429" FT /id="VAR_090162" FT VARIANT 226 FT /note="T -> M (in DEE6B; dbSNP:rs121917984)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:28794249" FT /id="VAR_043351" FT VARIANT 226 FT /note="T -> R (in DRVT; dbSNP:rs121917984)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073459" FT VARIANT 227 FT /note="I -> S (in DRVT; borderline phenotype with spike FT wave activity in some patients; results in a non-functional FT channel; dbSNP:rs121917937)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19589774, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492" FT /id="VAR_029666" FT VARIANT 227 FT /note="I -> T (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073460" FT VARIANT 228 FT /note="S -> P (in DRVT; dbSNP:rs1057519530)" FT /evidence="ECO:0000269|PubMed:27864847" FT /id="VAR_078192" FT VARIANT 232 FT /note="G -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073461" FT VARIANT 233 FT /note="L -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073462" FT VARIANT 239 FT /note="A -> T (in DRVT; borderline phenotype with spike FT wave activity in some patients; dbSNP:rs121917985)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:20431604" FT /id="VAR_043352" FT VARIANT 239 FT /note="A -> V (in DRVT; dbSNP:rs121917909)" FT /evidence="ECO:0000269|PubMed:20729507" FT /id="VAR_064239" FT VARIANT 243 FT /note="S -> Y (in DRVT; dbSNP:rs794726755)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073463" FT VARIANT 252 FT /note="I -> M (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073464" FT VARIANT 252 FT /note="I -> N (in DRVT; dbSNP:rs121918780)" FT /evidence="ECO:0000269|PubMed:15087100" FT /id="VAR_029667" FT VARIANT 254 FT /note="T -> I (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073465" FT VARIANT 259 FT /note="S -> R (in DRVT; dbSNP:rs121918735)" FT /evidence="ECO:0000269|PubMed:20431604, FT ECO:0000269|PubMed:23195492" FT /id="VAR_064240" FT VARIANT 265 FT /note="G -> W (in DRVT; dbSNP:rs121918749)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029668" FT VARIANT 277 FT /note="C -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073466" FT VARIANT 280 FT /note="W -> C (in DRVT)" FT /evidence="ECO:0000269|PubMed:18639757" FT /id="VAR_073467" FT VARIANT 280 FT /note="W -> R (in DRVT; dbSNP:rs121917938)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:23195492" FT /id="VAR_029669" FT VARIANT 281 FT /note="P -> A (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073468" FT VARIANT 281 FT /note="P -> L (in DRVT; dbSNP:rs796052964)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073469" FT VARIANT 281 FT /note="P -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073470" FT VARIANT 289 FT /note="E -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:22612257" FT /id="VAR_072743" FT VARIANT 290 FT /note="H -> R (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073471" FT VARIANT 291 FT /note="S -> G (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073472" FT VARIANT 297 FT /note="T -> I (in DRVT; dbSNP:rs121918771)" FT /evidence="ECO:0000269|PubMed:12821740" FT /id="VAR_029670" FT VARIANT 322 FT /note="R -> I (in DRVT; dbSNP:rs121917928)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:18930999" FT /id="VAR_064298" FT VARIANT 333 FT /note="A -> V" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073473" FT VARIANT 340 FT /note="S -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073474" FT VARIANT 342 FT /note="A -> V (in DRVT; dbSNP:rs794726797)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073475" FT VARIANT 343 FT /note="G -> D (in DRVT; dbSNP:rs121918753)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271" FT /id="VAR_029671" FT VARIANT 345 FT /note="C -> R (in DRVT; dbSNP:rs794726782)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073476" FT VARIANT 351 FT /note="C -> W (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073477" FT VARIANT 355 FT /note="G -> D (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073478" FT VARIANT 356 FT /note="R -> G (in DRVT; dbSNP:rs121917920)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064299" FT VARIANT 357 FT /note="N -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073479" FT VARIANT 358 FT /note="P -> T (in DRVT; dbSNP:rs121917923)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064300" FT VARIANT 359 FT /note="N -> S (in DRVT and ICEGTC; dbSNP:rs794726713)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23708187" FT /id="VAR_073480" FT VARIANT 363 FT /note="T -> P (in DRVT; dbSNP:rs1131691465)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073481" FT VARIANT 363 FT /note="T -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073482" FT VARIANT 366 FT /note="D -> E (in DRVT; dbSNP:rs121917958)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043353" FT VARIANT 377 FT /note="R -> Q (in GEFSP2; dbSNP:rs121917957)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043354" FT VARIANT 378 FT /note="L -> Q (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073483" FT VARIANT 379 FT /note="M -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:22612257" FT /id="VAR_072744" FT VARIANT 382 FT /note="D -> N (found in a patient with an unclassified form FT of epilepsy; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073484" FT VARIANT 383 FT /note="F -> L (in DRVT; dbSNP:rs121917939)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064301" FT VARIANT 384 FT /note="W -> R (in DRVT; borderline phenotype; FT dbSNP:rs1057523858)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073485" FT VARIANT 388 FT /note="Y -> H (in GEFSP2; dbSNP:rs121918781)" FT /evidence="ECO:0000269|PubMed:19464195" FT /id="VAR_064241" FT VARIANT 393 FT /note="R -> C (in DRVT; also in a patient with myoclonic FT astatic epilepsy; dbSNP:rs121917929)" FT /evidence="ECO:0000269|PubMed:17054684, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271" FT /id="VAR_043355" FT VARIANT 393 FT /note="R -> H (in DRVT and ICEGTC; results in a FT non-functional channel; dbSNP:rs121917927)" FT /evidence="ECO:0000269|PubMed:12754708, FT ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492, FT ECO:0000269|PubMed:28544625" FT /id="VAR_029672" FT VARIANT 393 FT /note="R -> S (in DRVT; dbSNP:rs121917929)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064302" FT VARIANT 395 FT /note="A -> P (found in a patient with cryptogenic FT generalized epilepsy; likely pathogenic; FT dbSNP:rs121917988)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_043356" FT VARIANT 400 FT /note="M -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073486" FT VARIANT 400 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073487" FT VARIANT 403 FT /note="F -> L (in DRVT; dbSNP:rs121917966)" FT /evidence="ECO:0000269|PubMed:16713920, FT ECO:0000269|PubMed:17347258" FT /id="VAR_064303" FT VARIANT 403 FT /note="F -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073488" FT VARIANT 406 FT /note="V -> F (in DRVT; dbSNP:rs121918768)" FT /evidence="ECO:0000269|PubMed:19589774, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064242" FT VARIANT 409 FT /note="L -> W (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073489" FT VARIANT 413 FT /note="Y -> N (in DRVT; dbSNP:rs121917967)" FT /evidence="ECO:0000269|PubMed:16713920, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774" FT /id="VAR_064243" FT VARIANT 422 FT /note="V -> E (found in a patient with cryptogenic FT generalized epilepsy; likely pathogenic; FT dbSNP:rs121917989)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_043357" FT VARIANT 422 FT /note="V -> L (in DEE6B)" FT /evidence="ECO:0000269|PubMed:24776920" FT /id="VAR_085927" FT VARIANT 426 FT /note="Y -> C (in DRVT; dbSNP:rs796052973)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073490" FT VARIANT 426 FT /note="Y -> N (in DRVT; results in decreased peak current FT densities; causes a negative shift in the half-maximal FT steady-state inactivation and delayed recovery from fast FT inactivation; dbSNP:rs121917940)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685" FT /id="VAR_029673" FT VARIANT 450..2009 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:25818041" FT /id="VAR_078726" FT VARIANT 525 FT /note="S -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073491" FT VARIANT 541 FT /note="N -> S (found in a patient with infantile epileptic FT spasms also carrying a PLPPR4 variant; uncertain FT significance)" FT /evidence="ECO:0000269|PubMed:36977636" FT /id="VAR_088154" FT VARIANT 542 FT /note="R -> Q (found in patients with different types of FT epilepsy; uncertain significance; also found in patients FT with autism; uncertain significance; dbSNP:rs121918817)" FT /evidence="ECO:0000269|PubMed:12610651, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029674" FT VARIANT 604 FT /note="R -> H (in dbSNP:rs121918769)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:21248271" FT /id="VAR_064244" FT VARIANT 616 FT /note="E -> D (found in a patient with drug-resistant FT epilepsy and mild cognitive impairment; likely pathogenic; FT dbSNP:rs1057519529)" FT /evidence="ECO:0000269|PubMed:27864847" FT /id="VAR_078193" FT VARIANT 626 FT /note="S -> G (in DRVT; also found in a patient with FT cryptogenic generalized epilepsy; dbSNP:rs121917990)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271" FT /id="VAR_043358" FT VARIANT 674 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_073492" FT VARIANT 699 FT /note="V -> I (in dbSNP:rs1260934774)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073493" FT VARIANT 762 FT /note="N -> D (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073494" FT VARIANT 783 FT /note="L -> P (in DRVT; dbSNP:rs121917968)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_064245" FT VARIANT 785 FT /note="M -> T (in DRVT; dbSNP:rs796053095)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073495" FT VARIANT 790 FT /note="Y -> C (in GEFSP2; dbSNP:rs121918782)" FT /evidence="ECO:0000269|PubMed:12919402" FT /id="VAR_029675" FT VARIANT 790 FT /note="Y -> F (found in patients with Panayiotopoulos FT syndrome; likely pathogenic; dbSNP:rs121918782)" FT /evidence="ECO:0000269|PubMed:17679682, FT ECO:0000269|PubMed:19522081" FT /id="VAR_073496" FT VARIANT 808 FT /note="T -> S (in ICEGTC; results in increased peak current FT density and delayed slow inactivation onset; recovery from FT slow inactivation is delayed; dbSNP:rs121918758)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029676" FT VARIANT 812 FT /note="T -> I (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073497" FT VARIANT 812 FT /note="T -> R (in DRVT; dbSNP:rs121917941)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064304" FT VARIANT 842 FT /note="L -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073498" FT VARIANT 843 FT /note="S -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073499" FT VARIANT 846 FT /note="E -> K (in DRVT; dbSNP:rs121917942)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064305" FT VARIANT 854..855 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073500" FT VARIANT 859 FT /note="R -> C (in GEFSP2 and DRVT; causes a positive shift FT in the voltage dependence of channel activation, slower FT recovery from slow inactivation and lower levels of current FT compared with the wild-type channel; dbSNP:rs121918784)" FT /evidence="ECO:0000269|PubMed:16525050, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271" FT /id="VAR_064306" FT VARIANT 859 FT /note="R -> H (in GEFSP2; results in impaired channel fast FT inactivation and significantly increased persistent FT current; dbSNP:rs398123588)" FT /evidence="ECO:0000269|PubMed:21864321" FT /id="VAR_073501" FT VARIANT 862 FT /note="R -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:21753172" FT /id="VAR_085928" FT VARIANT 862 FT /note="R -> Q (in DRVT; dbSNP:rs121918785)" FT /evidence="ECO:0000269|PubMed:20110217, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064246" FT VARIANT 865 FT /note="R -> G (in DRVT; results in impaired channel fast FT inactivation and significantly increased persistent FT current)" FT /evidence="ECO:0000269|PubMed:21864321" FT /id="VAR_073502" FT VARIANT 875 FT /note="T -> K (in DRVT; dbSNP:rs121918623)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064247" FT VARIANT 875 FT /note="T -> M (in GEFSP2 and DRVT; borderline phenotype; FT dbSNP:rs121918623)" FT /evidence="ECO:0000269|PubMed:10742094, FT ECO:0000269|PubMed:23195492" FT /id="VAR_010110" FT VARIANT 876 FT /note="L -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073503" FT VARIANT 890 FT /note="L -> P (in DRVT; dbSNP:rs1553541473)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073504" FT VARIANT 896 FT /note="V -> F (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073505" FT VARIANT 896 FT /note="V -> I (in ICEGTC; dbSNP:rs745378416)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073506" FT VARIANT 896 FT /note="V -> L (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073507" FT VARIANT 899 FT /note="I -> T (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:19522081" FT /id="VAR_073508" FT VARIANT 902 FT /note="F -> C (in DRVT; dbSNP:rs121918787)" FT /evidence="ECO:0000269|PubMed:12083760" FT /id="VAR_029677" FT VARIANT 924 FT /note="A -> T (in dbSNP:rs141950573)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073509" FT VARIANT 927 FT /note="C -> F (in DRVT; dbSNP:rs794726811)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073510" FT VARIANT 931 FT /note="R -> C (in DRVT; dbSNP:rs121918788)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:18930999" FT /id="VAR_029678" FT VARIANT 931 FT /note="R -> H (in DRVT; likely pathogenic; FT dbSNP:rs794726718)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21719429" FT /id="VAR_073511" FT VARIANT 932 FT /note="W -> C (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073512" FT VARIANT 933 FT /note="H -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073513" FT VARIANT 934 FT /note="M -> I (in DRVT; dbSNP:rs121918774)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:23195492" FT /id="VAR_029679" FT VARIANT 935 FT /note="N -> H (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:18566737" FT /id="VAR_073514" FT VARIANT 939 FT /note="H -> P (in DRVT; uncertain significance)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073515" FT VARIANT 939 FT /note="H -> Q (in DRVT; results in a non-functional FT channel; dbSNP:rs121918795)" FT /evidence="ECO:0000269|PubMed:12754708, FT ECO:0000269|PubMed:17054685" FT /id="VAR_029680" FT VARIANT 939 FT /note="H -> Y (in DRVT; dbSNP:rs121918736)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064248" FT VARIANT 940 FT /note="S -> F (in DRVT; dbSNP:rs1057521080)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073516" FT VARIANT 942 FT /note="L -> P (in DRVT; dbSNP:rs121917943)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064307" FT VARIANT 943 FT /note="I -> N (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073517" FT VARIANT 944 FT /note="V -> A (in DRVT and ICEGTC; dbSNP:rs121917969)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029681" FT VARIANT 944 FT /note="V -> E (in DRVT)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_064249" FT VARIANT 945 FT /note="F -> L (in DRVT; dbSNP:rs121917970)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_064250" FT VARIANT 946 FT /note="R -> C (in DRVT; loss-of-function mutation resulting FT in complete absence of sodium current; dbSNP:rs121918775)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029682" FT VARIANT 946 FT /note="R -> H (in DRVT and GEFSP2; GEFSP2 phenotype FT consists of partial epilepsy with antecedent febrile FT seizures and seizure aggravation by antiepileptic drugs; FT loss-of-function mutation resulting in complete absence of FT sodium current; dbSNP:rs121917971)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:19589774, FT ECO:0000269|PubMed:20550552, ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:23195492" FT /id="VAR_029683" FT VARIANT 946 FT /note="R -> S (in DRVT; dbSNP:rs121918775)" FT /evidence="ECO:0000269|PubMed:15944908" FT /id="VAR_057995" FT VARIANT 949 FT /note="C -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073518" FT VARIANT 949 FT /note="C -> Y (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073519" FT VARIANT 950 FT /note="G -> E (in DRVT; dbSNP:rs121917972)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_064251" FT VARIANT 950 FT /note="G -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073520" FT VARIANT 952 FT /note="W -> G (in DRVT; dbSNP:rs121918737)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064252" FT VARIANT 954 FT /note="E -> K (in DRVT; dbSNP:rs121918786)" FT /evidence="ECO:0000269|PubMed:20110217, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064253" FT VARIANT 956 FT /note="M -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073521" FT VARIANT 957 FT /note="W -> L (in DRVT; dbSNP:rs121917917)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064308" FT VARIANT 959 FT /note="C -> R (in DRVT; results in a non-functional FT channel; dbSNP:rs121918796)" FT /evidence="ECO:0000269|PubMed:12754708, FT ECO:0000269|PubMed:17054685" FT /id="VAR_029684" FT VARIANT 960 FT /note="M -> T (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073522" FT VARIANT 960 FT /note="M -> V (in DRVT; dbSNP:rs121918750)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029685" FT VARIANT 973 FT /note="M -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073523" FT VARIANT 973 FT /note="M -> V (in GEFSP2; dbSNP:rs121917991)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:21248271" FT /id="VAR_043359" FT VARIANT 976 FT /note="M -> I (in DRVT and GEFSP2)" FT /evidence="ECO:0000269|PubMed:19522081, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073524" FT VARIANT 978 FT /note="I -> M (in GEFSP2; uncertain significance)" FT /evidence="ECO:0000269|PubMed:17927801" FT /id="VAR_073525" FT VARIANT 979 FT /note="G -> R (in ICEGTC; loss-of-function mutation FT resulting in absence of sodium current; dbSNP:rs121918754)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029686" FT VARIANT 979 FT /note="G -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073526" FT VARIANT 982 FT /note="V -> L (found in a patient with acute encephalopathy FT with biphasic seizures and late reduced diffusion; FT uncertain significance)" FT /evidence="ECO:0000269|PubMed:22309220, FT ECO:0000269|PubMed:26311622" FT /id="VAR_075569" FT VARIANT 983 FT /note="V -> A (in ICEGTC; reduced function; decreased peak FT current density; results in a negative shift of FT inactivation and positive shift of activation; FT dbSNP:rs121918756)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029687" FT VARIANT 985 FT /note="N -> I (in DRVT; dbSNP:rs121918747)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029688" FT VARIANT 986 FT /note="L -> F (in DRVT; complete loss of sodium ion FT transmembrane transport; dbSNP:rs121918625)" FT /evidence="ECO:0000269|PubMed:11359211, FT ECO:0000269|PubMed:14672992" FT /id="VAR_014268" FT VARIANT 986 FT /note="L -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073527" FT VARIANT 987 FT /note="F -> L (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073528" FT VARIANT 993 FT /note="S -> R (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073529" FT VARIANT 998 FT /note="D -> G (in DRVT; dbSNP:rs1484321812)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073530" FT VARIANT 999..1000 FT /note="NL -> LIS (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073531" FT VARIANT 1006 FT /note="D -> E (found in a patient with an unclassified form FT of epilepsy; likely pathogenic; dbSNP:rs375909896)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073532" FT VARIANT 1011 FT /note="N -> I (in ICEGTC; results in reduced peak current FT density and hyperpolarizing shift in inactivation; FT dbSNP:rs121918759)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029689" FT VARIANT 1034 FT /note="I -> T (in dbSNP:rs121918818)" FT /evidence="ECO:0000269|PubMed:12610651" FT /id="VAR_029690" FT VARIANT 1038 FT /note="F -> L" FT /evidence="ECO:0000269|PubMed:12610651" FT /id="VAR_029691" FT VARIANT 1067 FT /note="A -> T (in dbSNP:rs2298771)" FT /evidence="ECO:0000269|PubMed:11254444, FT ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:12610651, ECO:0000269|PubMed:16122630, FT ECO:0000269|PubMed:19694741, ECO:0000269|PubMed:20682179, FT ECO:0000269|Ref.4" FT /id="VAR_014269" FT VARIANT 1068 FT /note="E -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073533" FT VARIANT 1079 FT /note="V -> I" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073534" FT VARIANT 1109 FT /note="P -> T (in dbSNP:rs753452775)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073535" FT VARIANT 1174 FT /note="T -> S (in FHM3; dbSNP:rs121918799)" FT /evidence="ECO:0000269|PubMed:18021921" FT /id="VAR_064309" FT VARIANT 1204 FT /note="W -> R (in GEFSP2; causes hyperpolarized shifts in FT the voltage dependence of activation and steady-state FT inactivation; dbSNP:rs121917930)" FT /evidence="ECO:0000269|PubMed:11254445, FT ECO:0000269|PubMed:12535936, ECO:0000269|PubMed:17561957" FT /id="VAR_014270" FT VARIANT 1204 FT /note="W -> S (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073536" FT VARIANT 1207 FT /note="L -> P (in DRVT; dbSNP:rs121917963)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043360" FT VARIANT 1208 FT /note="R -> K (in DRVT; dbSNP:rs1559149025)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073537" FT VARIANT 1210 FT /note="T -> K (in DRVT; dbSNP:rs121918738)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064254" FT VARIANT 1213 FT /note="R -> Q (in ICEGTC; dbSNP:rs566081370)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073538" FT VARIANT 1221 FT /note="E -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073539" FT VARIANT 1230 FT /note="L -> F (in DRVT and GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073540" FT VARIANT 1231 FT /note="S -> R (in DRVT; dbSNP:rs121918746)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029692" FT VARIANT 1231 FT /note="S -> T (in DRVT; dbSNP:rs121918800)" FT /evidence="ECO:0000269|PubMed:16458823" FT /id="VAR_064310" FT VARIANT 1233 FT /note="G -> R (in DRVT; dbSNP:rs121917911)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684" FT /id="VAR_029693" FT VARIANT 1238 FT /note="E -> D (in DRVT; dbSNP:rs121917973)" FT /evidence="ECO:0000269|PubMed:16713920, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23662938" FT /id="VAR_043361" FT VARIANT 1239 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073541" FT VARIANT 1239 FT /note="D -> Y (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073542" FT VARIANT 1245 FT /note="R -> Q (in DRVT; dbSNP:rs121917912)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064311" FT VARIANT 1249 FT /note="K -> N (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:19522081" FT /id="VAR_073543" FT VARIANT 1250 FT /note="T -> M (in GEFSP2; dbSNP:rs140731963)" FT /evidence="ECO:0000269|PubMed:19522081" FT /id="VAR_073544" FT VARIANT 1254 FT /note="Y -> C (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073545" FT VARIANT 1255 FT /note="A -> D (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073546" FT VARIANT 1260 FT /note="T -> P (in DRVT; dbSNP:rs121918739)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064255" FT VARIANT 1263 FT /note="F -> L (in DRVT; dbSNP:rs121918752)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029694" FT VARIANT 1265 FT /note="L -> P (in DRVT; dbSNP:rs121918794)" FT /evidence="ECO:0000269|PubMed:12083760" FT /id="VAR_029695" FT VARIANT 1266 FT /note="E -> A (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21719429" FT /id="VAR_073547" FT VARIANT 1270 FT /note="K -> T (in GEFSP2; dbSNP:rs121918626)" FT /evidence="ECO:0000269|PubMed:11756608" FT /id="VAR_014271" FT VARIANT 1275 FT /note="G -> A (found in a child with sporadic epilepsy; FT uncertain significance)" FT /evidence="ECO:0000269|PubMed:23647072" FT /id="VAR_077831" FT VARIANT 1275 FT /note="G -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073548" FT VARIANT 1284..2009 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:26993267" FT /id="VAR_078727" FT VARIANT 1284 FT /note="W -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073549" FT VARIANT 1287 FT /note="L -> P (in DRVT; dbSNP:rs121918740)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064256" FT VARIANT 1288 FT /note="D -> N (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073550" FT VARIANT 1289 FT /note="Missing (in DRVT; results in a non-functional FT channel)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:18930999" FT /id="VAR_029696" FT VARIANT 1308 FT /note="E -> D (in FEB3A; uncertain significance; also found FT in patients with early infantile epileptic encephalopathy; FT uncertain significance; dbSNP:rs121917910)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:20729507, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064257" FT VARIANT 1309 FT /note="L -> F (in GEFSP2; dbSNP:rs121918801)" FT /evidence="ECO:0000269|PubMed:20117752" FT /id="VAR_064258" FT VARIANT 1316 FT /note="R -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073551" FT VARIANT 1316 FT /note="R -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073552" FT VARIANT 1320 FT /note="A -> V (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073553" FT VARIANT 1325 FT /note="R -> T (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073554" FT VARIANT 1326 FT /note="A -> D (found in a patient with an unclassified form FT of epilepsy; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073555" FT VARIANT 1326 FT /note="A -> P (in DRVT; dbSNP:rs121918803)" FT /evidence="ECO:0000269|PubMed:14504318, FT ECO:0000269|PubMed:21248271" FT /id="VAR_029698" FT VARIANT 1328 FT /note="S -> P (in ICEGTC and DRVT)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073556" FT VARIANT 1335 FT /note="V -> M (in DRVT; dbSNP:rs121917960)" FT /evidence="ECO:0000269|PubMed:18413471, FT ECO:0000269|PubMed:20431604" FT /id="VAR_043362" FT VARIANT 1339 FT /note="A -> V (in DRVT; changed voltage-gated sodium FT channel activity; right shift of the activation curve and FT slight left shift of the inactivation curve; FT dbSNP:rs794726789)" FT /evidence="ECO:0000269|PubMed:22092154, FT ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:33712547" FT /id="VAR_073557" FT VARIANT 1344 FT /note="I -> M (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073558" FT VARIANT 1345 FT /note="P -> L (in DRVT)" FT /evidence="ECO:0000269|PubMed:26993267" FT /id="VAR_078728" FT VARIANT 1345 FT /note="P -> S (in DEE6B)" FT /evidence="ECO:0000269|PubMed:28794249" FT /id="VAR_085929" FT VARIANT 1350 FT /note="V -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073559" FT VARIANT 1353 FT /note="V -> L (in GEFSP2; complete loss of sodium ion FT transmembrane transport; dbSNP:rs121917954)" FT /evidence="ECO:0000269|PubMed:11254444, FT ECO:0000269|PubMed:14672992" FT /id="VAR_014272" FT VARIANT 1355 FT /note="L -> P (in DRVT; dbSNP:rs121918776)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029697" FT VARIANT 1357 FT /note="F -> L (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073560" FT VARIANT 1358 FT /note="W -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073561" FT VARIANT 1358 FT /note="W -> S (in DRVT; dbSNP:rs121917961)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043363" FT VARIANT 1366 FT /note="V -> I (in GEFSP2 and ICEGTC; dbSNP:rs121918805)" FT /evidence="ECO:0000269|PubMed:17507202" FT /id="VAR_043364" FT VARIANT 1367 FT /note="N -> K (in DRVT; dbSNP:rs121918760)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064259" FT VARIANT 1370 FT /note="A -> P (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073562" FT VARIANT 1376 FT /note="C -> R (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073563" FT VARIANT 1378 FT /note="N -> H (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073564" FT VARIANT 1378 FT /note="N -> T (in DRVT; dbSNP:rs1131691775)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073565" FT VARIANT 1385 FT /note="F -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073566" FT VARIANT 1390 FT /note="V -> M (in DRVT; some patients have a borderline FT DRVT phenotype; dbSNP:rs121917986)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:20431604" FT /id="VAR_029699" FT VARIANT 1391 FT /note="N -> S (in DRVT; dbSNP:rs1553525062)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073567" FT VARIANT 1393 FT /note="H -> P (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:17129991" FT /id="VAR_073568" FT VARIANT 1394 FT /note="T -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073569" FT VARIANT 1396 FT /note="C -> G (in DRVT; some patients have a borderline FT DRVT phenotype; dbSNP:rs121917987)" FT /evidence="ECO:0000269|PubMed:16713920, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774" FT /id="VAR_064260" FT VARIANT 1396 FT /note="C -> Y (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073570" FT VARIANT 1414 FT /note="N -> D (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073571" FT VARIANT 1414 FT /note="N -> Y (in DRVT; dbSNP:rs121917925)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064312" FT VARIANT 1416 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073572" FT VARIANT 1417 FT /note="N -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073573" FT VARIANT 1418 FT /note="V -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073574" FT VARIANT 1422 FT /note="Y -> C (in DRVT; dbSNP:rs121917913)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064313" FT VARIANT 1423 FT /note="L -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073575" FT VARIANT 1426 FT /note="L -> R (in DRVT; dbSNP:rs121917944)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064314" FT VARIANT 1427 FT /note="Q -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073576" FT VARIANT 1428 FT /note="V -> A (in GEFSP2; dbSNP:rs121918627)" FT /evidence="ECO:0000269|PubMed:11524484" FT /id="VAR_029700" FT VARIANT 1429 FT /note="A -> D (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073577" FT VARIANT 1429 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073578" FT VARIANT 1431 FT /note="F -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073579" FT VARIANT 1433 FT /note="G -> E (in DRVT; dbSNP:rs121918741)" FT /evidence="ECO:0000269|PubMed:20431604" FT /id="VAR_064261" FT VARIANT 1433 FT /note="G -> R (in DRVT; dbSNP:rs121917908)" FT /evidence="ECO:0000269|PubMed:20729507" FT /id="VAR_064262" FT VARIANT 1433 FT /note="G -> V (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073580" FT VARIANT 1434 FT /note="W -> R (in DRVT; dbSNP:rs121918789)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:12754708" FT /id="VAR_029701" FT VARIANT 1437 FT /note="I -> M (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073581" FT VARIANT 1440 FT /note="A -> V (found in a patient with autism; uncertain FT significance; dbSNP:rs1559122124)" FT /evidence="ECO:0000269|PubMed:26637798" FT /id="VAR_078729" FT VARIANT 1441 FT /note="A -> P (in DRVT; dbSNP:rs121917974)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_064348" FT VARIANT 1450 FT /note="Q -> K (in DRVT; dbSNP:rs121918806)" FT /evidence="ECO:0000269|PubMed:19589774, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064263" FT VARIANT 1450 FT /note="Q -> R (in DRVT; dbSNP:rs121918790)" FT /evidence="ECO:0000269|PubMed:12083760" FT /id="VAR_029702" FT VARIANT 1451 FT /note="P -> L (in DRVT; dbSNP:rs121917945)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064315" FT VARIANT 1451 FT /note="P -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073582" FT VARIANT 1453 FT /note="Y -> C (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073583" FT VARIANT 1454 FT /note="E -> K (in DRVT; dbSNP:rs1553522472)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073584" FT VARIANT 1461 FT /note="L -> I (in DRVT; dbSNP:rs121918772)" FT /evidence="ECO:0000269|PubMed:12821740" FT /id="VAR_029703" FT VARIANT 1462 FT /note="Y -> C (in DRVT; dbSNP:rs121917962)" FT /evidence="ECO:0000269|PubMed:18413471" FT /id="VAR_043365" FT VARIANT 1462 FT /note="Y -> H (in DRVT and ICEGTC; borderline DRVT FT phenotype; dbSNP:rs1559119345)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21719429, ECO:0000269|PubMed:23195492" FT /id="VAR_073585" FT VARIANT 1463 FT /note="F -> S (in DRVT; dbSNP:rs121917946)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684" FT /id="VAR_029704" FT VARIANT 1470 FT /note="G -> W (in DRVT; dbSNP:rs121917924)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064316" FT VARIANT 1472 FT /note="F -> S (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073586" FT VARIANT 1473 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073587" FT VARIANT 1475 FT /note="L -> S (in DRVT; dbSNP:rs121917947)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064317" FT VARIANT 1476 FT /note="N -> K (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073588" FT VARIANT 1480 FT /note="G -> V (found in a patient with myoclonic astatic FT epilepsy; likely pathogenic; dbSNP:rs121917996)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_043366" FT VARIANT 1483 FT /note="I -> M (found in a patient with an unclassified form FT of epilepsy; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073589" FT VARIANT 1483 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073590" FT VARIANT 1484 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073591" FT VARIANT 1485 FT /note="N -> Y (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073592" FT VARIANT 1489 FT /note="Q -> H (in FHM3; dbSNP:rs121918633)" FT /evidence="ECO:0000269|PubMed:19332696" FT /id="VAR_057996" FT VARIANT 1489 FT /note="Q -> K (in FHM3; dbSNP:rs121918628)" FT /evidence="ECO:0000269|PubMed:16054936" FT /id="VAR_025281" FT VARIANT 1499 FT /note="F -> L (in FHM3; changed voltage-gated sodium FT channel activity; right shift of the inactivation curve FT without major impact on activation; dbSNP:rs121918632)" FT /evidence="ECO:0000269|PubMed:19332696, FT ECO:0000269|PubMed:33712547" FT /id="VAR_057997" FT VARIANT 1503 FT /note="E -> K (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:19783390, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492" FT /id="VAR_073593" FT VARIANT 1503 FT /note="Missing (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073594" FT VARIANT 1511 FT /note="M -> K (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073595" FT VARIANT 1514 FT /note="L -> S (in DRVT; dbSNP:rs121918764)" FT /evidence="ECO:0000269|PubMed:20522430" FT /id="VAR_064264" FT VARIANT 1523 FT /note="I -> T (in DRVT; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21719429" FT /id="VAR_090163" FT VARIANT 1538 FT /note="V -> I (in DRVT; dbSNP:rs780360360)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073596" FT VARIANT 1543 FT /note="F -> S (in a patient with cryptogenic focal FT epilepsy; dbSNP:rs121917992)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_043367" FT VARIANT 1544 FT /note="D -> A (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073597" FT VARIANT 1544 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073598" FT VARIANT 1545 FT /note="I -> V (in DRVT; dbSNP:rs121917975)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:23195492" FT /id="VAR_064265" FT VARIANT 1555 FT /note="M -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073599" FT VARIANT 1559 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:14738421" FT /id="VAR_029705" FT VARIANT 1561 FT /note="E -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073600" FT VARIANT 1575 FT /note="R -> C (found in patients with Dravet syndrome; FT uncertain significance; found in a patient with acute FT necrotizing encephalopathy; uncertain significance; also FT found in a patient with acute encephalopathy with biphasic FT seizures and late reduced diffusion; uncertain FT significance; dbSNP:rs121918807)" FT /evidence="ECO:0000269|PubMed:18031552, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:22309220, FT ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:26311622" FT /id="VAR_064318" FT VARIANT 1579 FT /note="V -> E (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073601" FT VARIANT 1586 FT /note="G -> E (in DRVT; dbSNP:rs121918742)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:21248271" FT /id="VAR_064266" FT VARIANT 1588 FT /note="C -> R (in DRVT; dbSNP:rs121917919)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:25818041" FT /id="VAR_064319" FT VARIANT 1592 FT /note="L -> H (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073602" FT VARIANT 1592 FT /note="L -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073603" FT VARIANT 1596 FT /note="R -> C (in DRVT; also found in a patient with FT cryptogenic focal epilepsy; affects voltage-gated sodium FT channel activity resulting in reduced current amplitude and FT a hyperpolarizing shift of the inactivation curve with no FT changes in the kinetics of recovery from inactivation; FT dbSNP:rs121917993)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:38339022" FT /id="VAR_043368" FT VARIANT 1596 FT /note="R -> H (in GEFSP2; dbSNP:rs575368466)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073604" FT VARIANT 1596 FT /note="R -> L (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073605" FT VARIANT 1605 FT /note="N -> I (in DRVT; dbSNP:rs1057519533)" FT /evidence="ECO:0000269|PubMed:27864847" FT /id="VAR_078194" FT VARIANT 1605 FT /note="N -> S (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073606" FT VARIANT 1608 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073607" FT VARIANT 1608 FT /note="D -> Y (in DRVT; dbSNP:rs121917915)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064320" FT VARIANT 1611 FT /note="V -> F (in ICEGTC; results in greater levels of FT persistent non-inactivating current compared to wild-type; FT dbSNP:rs121918630)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029706" FT VARIANT 1612 FT /note="V -> I (in DRVT; dbSNP:rs121918808)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:20452746" FT /id="VAR_064267" FT VARIANT 1619 FT /note="M -> V (in ICEGTC; dbSNP:rs373967247)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073608" FT VARIANT 1630 FT /note="V -> L (in DRVT; borderline phenotype in some FT patients; dbSNP:rs121917914)" FT /evidence="ECO:0000269|PubMed:22092154, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073609" FT VARIANT 1630 FT /note="V -> M (in DRVT; dbSNP:rs121917914)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064321" FT VARIANT 1632 FT /note="P -> S (in ICEGTC; results in greater levels of FT persistent non-inactivating current compared to wild-type; FT dbSNP:rs121918755)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029707" FT VARIANT 1636 FT /note="R -> Q (found in a patient with Lennon-Gastaut FT syndrome; likely pathogenic; dbSNP:rs121917995)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_043369" FT VARIANT 1637 FT /note="V -> E (in DRVT; also found in a child with febrile FT status epilepticus who developed liver failure; FT dbSNP:rs121918810)" FT /evidence="ECO:0000269|PubMed:20392657, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064268" FT VARIANT 1638 FT /note="I -> N (in DRVT; dbSNP:rs1057521079)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073610" FT VARIANT 1638 FT /note="I -> T (in DRVT; also found in a patient with an FT unclassified form of epilepsy)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21719429" FT /id="VAR_073611" FT VARIANT 1639 FT /note="R -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073612" FT VARIANT 1642 FT /note="R -> S (in DRVT; dbSNP:rs1131691581)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073613" FT VARIANT 1645 FT /note="R -> Q (in DRVT; dbSNP:rs121917976)" FT /evidence="ECO:0000269|PubMed:16713920, FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774" FT /id="VAR_064269" FT VARIANT 1648 FT /note="R -> C (in DRVT; dbSNP:rs121918791)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:21248271" FT /id="VAR_029708" FT VARIANT 1648 FT /note="R -> H (in GEFSP2 and DRVT; dbSNP:rs121918622)" FT /evidence="ECO:0000269|PubMed:10742094, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:20522430" FT /id="VAR_010111" FT VARIANT 1649 FT /note="L -> Q (in FHM3)" FT /evidence="ECO:0000269|PubMed:17397047" FT /id="VAR_064322" FT VARIANT 1653 FT /note="A -> E (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073614" FT VARIANT 1656 FT /note="I -> M (in GEFSP2; changed voltage-gated sodium FT channel activity; exhibits a depolarizing shift in the FT voltage dependence of activation; dbSNP:rs121917955)" FT /evidence="ECO:0000269|PubMed:11254444, FT ECO:0000269|PubMed:14672992" FT /id="VAR_014273" FT VARIANT 1657 FT /note="R -> C (in GEFSP2; changed voltage-gated sodium FT channel activity; exhibits a depolarizing shift in the FT voltage dependence of activation; shows a 50% reduction in FT current density and accelerates recovery from slow FT inactivation; dbSNP:rs121918811)" FT /evidence="ECO:0000269|PubMed:14672992" FT /id="VAR_029709" FT VARIANT 1657 FT /note="R -> H (found in a patient with cryptogenic focal FT epilepsy; likely pathogenic; dbSNP:rs121917994)" FT /evidence="ECO:0000269|PubMed:17347258, FT ECO:0000269|PubMed:19589774" FT /id="VAR_043370" FT VARIANT 1658 FT /note="T -> M (in DRVT; dbSNP:rs121917922)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064270" FT VARIANT 1658 FT /note="T -> R (in DRVT; changed voltage-gated sodium FT channel activity; inactivation curve is shifted toward the FT negative potential; dbSNP:rs121917922)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:33712547" FT /id="VAR_064323" FT VARIANT 1660 FT /note="L -> P (in DRVT; dbSNP:rs1131691675)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073615" FT VARIANT 1661 FT /note="F -> S (in DRVT; dbSNP:rs121918797)" FT /evidence="ECO:0000269|PubMed:12754708" FT /id="VAR_029710" FT VARIANT 1662 FT /note="A -> V (in DRVT; borderline phenotype; FT dbSNP:rs794726839)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073616" FT VARIANT 1664 FT /note="M -> K (in DRVT; dbSNP:rs121918765)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064271" FT VARIANT 1667 FT /note="L -> P (in DRVT; dbSNP:rs1131691774)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073617" FT VARIANT 1668 FT /note="P -> A (in DRVT; dbSNP:rs121917948)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684" FT /id="VAR_029711" FT VARIANT 1668 FT /note="P -> L (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073618" FT VARIANT 1669 FT /note="A -> E (in DRVT)" FT /evidence="ECO:0000269|PubMed:21555645" FT /id="VAR_085930" FT VARIANT 1672 FT /note="N -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073619" FT VARIANT 1673 FT /note="I -> T (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073620" FT VARIANT 1674 FT /note="G -> R (in DRVT; dbSNP:rs121918792)" FT /evidence="ECO:0000269|PubMed:12083760" FT /id="VAR_029712" FT VARIANT 1674 FT /note="G -> S (found in a patient acute encephalopathy with FT biphasic seizures and late reduced diffusion; uncertain FT significance)" FT /evidence="ECO:0000269|PubMed:26311622" FT /id="VAR_075570" FT VARIANT 1675 FT /note="L -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073621" FT VARIANT 1677 FT /note="L -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073622" FT VARIANT 1683 FT /note="I -> F (found in a patient with an unclassified form FT of epilepsy; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073623" FT VARIANT 1683 FT /note="I -> T (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073624" FT VARIANT 1684 FT /note="Y -> D (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073625" FT VARIANT 1684 FT /note="Y -> S (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073626" FT VARIANT 1685 FT /note="A -> D (in DRVT; dbSNP:rs121918744)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029714" FT VARIANT 1685 FT /note="A -> V (in GEFSP2; complete loss of sodium ion FT transmembrane transport; dbSNP:rs121918744)" FT /evidence="ECO:0000269|PubMed:11524484, FT ECO:0000269|PubMed:14672992" FT /id="VAR_029715" FT VARIANT 1687 FT /note="F -> S (in GEFSP2; dbSNP:rs121917932)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064324" FT VARIANT 1688 FT /note="G -> W (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073627" FT VARIANT 1692 FT /note="F -> S (in DRVT; dbSNP:rs121918778)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029716" FT VARIANT 1694 FT /note="Y -> C (in DRVT; dbSNP:rs121918777)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029713" FT VARIANT 1707 FT /note="F -> V (in DRVT; dbSNP:rs121917977)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_064349" FT VARIANT 1709 FT /note="T -> I (in ICEGTC; loss-of-function mutation FT resulting in absence of sodium current; dbSNP:rs121918629)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029717" FT VARIANT 1713 FT /note="S -> N (in DRVT; dbSNP:rs121918816)" FT /evidence="ECO:0000269|PubMed:16122630" FT /id="VAR_064325" FT VARIANT 1714 FT /note="M -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073628" FT VARIANT 1714 FT /note="M -> R (in DRVT; dbSNP:rs121917949)" FT /evidence="ECO:0000269|PubMed:17054684, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064326" FT VARIANT 1716 FT /note="C -> R (in DRVT; dbSNP:rs121917926)" FT /evidence="ECO:0000269|PubMed:17561957" FT /id="VAR_064327" FT VARIANT 1721 FT /note="T -> R (in DRVT; dbSNP:rs121917978)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_064350" FT VARIANT 1724 FT /note="A -> P (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073629" FT VARIANT 1725 FT /note="G -> C (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073630" FT VARIANT 1726 FT /note="W -> R (in DRVT; dbSNP:rs121917979)" FT /evidence="ECO:0000269|PubMed:19589774" FT /id="VAR_064272" FT VARIANT 1727 FT /note="D -> G (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073631" FT VARIANT 1739 FT /note="P -> L (in GEFSP2)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073632" FT VARIANT 1741 FT /note="C -> R (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073633" FT VARIANT 1742 FT /note="D -> G (in GEFSP2; dbSNP:rs121918812)" FT /evidence="ECO:0000269|PubMed:15694566" FT /id="VAR_057998" FT VARIANT 1749 FT /note="G -> E (in DRVT; dbSNP:rs121918798)" FT /evidence="ECO:0000269|PubMed:12754708" FT /id="VAR_029718" FT VARIANT 1756 FT /note="C -> G (in DRVT; dbSNP:rs121918809)" FT /evidence="ECO:0000269|PubMed:19563458, FT ECO:0000269|PubMed:20452746" FT /id="VAR_064273" FT VARIANT 1762 FT /note="G -> E (in DRVT; dbSNP:rs121917950)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064328" FT VARIANT 1763 FT /note="I -> N (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073634" FT VARIANT 1765 FT /note="F -> L (in GEFSP2; disease phenotype consists of FT partial epilepsy with antecedent febrile seizures and FT seizure aggravation by antiepileptic drugs; FT loss-of-function mutation resulting in complete absence of FT sodium current)" FT /evidence="ECO:0000269|PubMed:20550552" FT /id="VAR_073635" FT VARIANT 1766 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029719" FT VARIANT 1770 FT /note="I -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073636" FT VARIANT 1770 FT /note="I -> N (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073637" FT VARIANT 1770 FT /note="I -> T (in DRVT; borderline phenotype)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073638" FT VARIANT 1771 FT /note="I -> F (in DRVT; borderline phenotype; also found in FT a patient with focal epilepsy)" FT /evidence="ECO:0000269|PubMed:18330841, FT ECO:0000269|PubMed:23195492" FT /id="VAR_073639" FT VARIANT 1771 FT /note="I -> N (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073640" FT VARIANT 1773 FT /note="S -> F (in DRVT; dbSNP:rs121917951)" FT /evidence="ECO:0000269|PubMed:17054684" FT /id="VAR_064329" FT VARIANT 1780 FT /note="M -> T (in DRVT; dbSNP:rs121917952)" FT /evidence="ECO:0000269|PubMed:12821740, FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:21248271" FT /id="VAR_029720" FT VARIANT 1781 FT /note="Y -> C (in DRVT and ICEGTC; dbSNP:rs121918779)" FT /evidence="ECO:0000269|PubMed:14738421, FT ECO:0000269|PubMed:23195492" FT /id="VAR_029721" FT VARIANT 1781 FT /note="Y -> H (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073641" FT VARIANT 1782 FT /note="I -> M (in DRVT; dbSNP:rs121918763)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:20522430" FT /id="VAR_064274" FT VARIANT 1782 FT /note="I -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073642" FT VARIANT 1783 FT /note="A -> T (in DRVT; dbSNP:rs121917980)" FT /evidence="ECO:0000269|PubMed:18930999, FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:20431604, FT ECO:0000269|PubMed:23195492" FT /id="VAR_064275" FT VARIANT 1783 FT /note="A -> V (in DRVT; dbSNP:rs121917921)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:23195492" FT /id="VAR_064345" FT VARIANT 1787 FT /note="E -> K (in DRVT; dbSNP:rs121917916)" FT /evidence="ECO:0000269|PubMed:17561957, FT ECO:0000269|PubMed:21248271" FT /id="VAR_064330" FT VARIANT 1788 FT /note="N -> K (in DRVT; uncertain significance; FT dbSNP:rs1381184010)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073643" FT VARIANT 1792 FT /note="A -> T (in DRVT)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073644" FT VARIANT 1795 FT /note="E -> K (in GEFSP2; dbSNP:rs121918813)" FT /evidence="ECO:0000269|PubMed:20600615" FT /id="VAR_064276" FT VARIANT 1807..1810 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029722" FT VARIANT 1808 FT /note="F -> I (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073645" FT VARIANT 1808 FT /note="F -> L (in ICEGTC; results in decreased peak current FT density but significantly greater levels of persistent FT non-inactivating current compared to wild-type channel; FT dbSNP:rs121918757)" FT /evidence="ECO:0000269|PubMed:12566275, FT ECO:0000269|PubMed:16210358" FT /id="VAR_029723" FT VARIANT 1812..1815 FT /note="WEKF -> C (in DRVT)" FT /id="VAR_029725" FT VARIANT 1812 FT /note="W -> G (in DRVT; dbSNP:rs121918751)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029724" FT VARIANT 1812 FT /note="W -> S (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073646" FT VARIANT 1813..1815 FT /note="Missing (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073647" FT VARIANT 1831 FT /note="F -> S (in DRVT; dbSNP:rs121918748)" FT /evidence="ECO:0000269|PubMed:12566275" FT /id="VAR_029726" FT VARIANT 1832 FT /note="A -> P (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073648" FT VARIANT 1835 FT /note="L -> F (in DRVT)" FT /evidence="ECO:0000269|PubMed:18930999" FT /id="VAR_073649" FT VARIANT 1852 FT /note="M -> K (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073650" FT VARIANT 1852 FT /note="M -> T (in GEFSP2; loss of localization to the FT plasma membrane; no effect on voltage-gated sodium channel FT activity; no effect on interaction with SCN1B; FT dbSNP:rs121918783)" FT /evidence="ECO:0000269|PubMed:12919402, FT ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:33712547" FT /id="VAR_029727" FT VARIANT 1855 FT /note="P -> L (in DRVT; dbSNP:rs1057517958)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073651" FT VARIANT 1857 FT /note="V -> L (in GEFSP2; dbSNP:rs121918814)" FT /evidence="ECO:0000269|PubMed:15715999" FT /id="VAR_057999" FT VARIANT 1861 FT /note="R -> W (in ICEGTC)" FT /evidence="ECO:0000269|PubMed:23195492" FT /id="VAR_073652" FT VARIANT 1866 FT /note="D -> Y (in GEFSP2; causes a positive shift in the FT voltage dependence of sodium channel fast inactivation; FT causes an increase in the magnitude of the persistent FT current; causes delay in the kinetics of inactivation and FT significantly reduces interaction with SCN1B; FT dbSNP:rs121918815)" FT /evidence="ECO:0000269|PubMed:15525788" FT /id="VAR_058000" FT VARIANT 1867 FT /note="I -> T (in GEFSP2; dbSNP:rs1131691773)" FT /evidence="ECO:0000269|PubMed:18251839, FT ECO:0000269|PubMed:21248271" FT /id="VAR_073653" FT VARIANT 1880 FT /note="G -> E (in DRVT; dbSNP:rs201905405)" FT /evidence="ECO:0000269|PubMed:21248271, FT ECO:0000269|PubMed:21719429" FT /id="VAR_073654" FT VARIANT 1881 FT /note="E -> D (in DRVT; dbSNP:rs121918804)" FT /evidence="ECO:0000269|PubMed:14504318" FT /id="VAR_029728" FT VARIANT 1909 FT /note="T -> I (in DRVT; functional channel displaying FT decreased peak current densities but increased persistent FT current; dbSNP:rs121918793)" FT /evidence="ECO:0000269|PubMed:12083760, FT ECO:0000269|PubMed:17054685" FT /id="VAR_029729" FT VARIANT 1909 FT /note="Missing (in DRVT; dbSNP:rs1553519902)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073655" FT VARIANT 1922 FT /note="I -> T (in DRVT; dbSNP:rs121917981)" FT /evidence="ECO:0000269|PubMed:17347258" FT /id="VAR_064351" FT VARIANT 1927 FT /note="R -> IIQ (in DRVT)" FT /evidence="ECO:0000269|PubMed:21248271" FT /id="VAR_073656" FT VARIANT 1928 FT /note="R -> G (in dbSNP:rs121917956)" FT /evidence="ECO:0000269|PubMed:11254444, FT ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18930999" FT /id="VAR_043371" FT VARIANT 1955 FT /note="I -> T (in dbSNP:rs35735053)" FT /evidence="ECO:0000269|PubMed:12610651" FT /id="VAR_029730" FT VARIANT 1957 FT /note="E -> G (in infantile spasms; dbSNP:rs121918802)" FT /evidence="ECO:0000269|PubMed:14504318" FT /id="VAR_029731" FT VARIANT 1977 FT /note="M -> L (found in a patient with febrile seizures and FT non-specific acute encephalopathy; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22309220" FT /id="VAR_075571" FT VARIANT 1988 FT /note="R -> W (found in a patient with epilepsy-aphasia and FT febrile seizures plus; uncertain significance; FT dbSNP:rs756519197)" FT /evidence="ECO:0000269|PubMed:23708187" FT /id="VAR_078611" FT CONFLICT 670 FT /note="E -> G (in Ref. 2; AAK00217)" FT /evidence="ECO:0000305" FT CONFLICT 746 FT /note="L -> S (in Ref. 2; AAK00217)" FT /evidence="ECO:0000305" FT CONFLICT 930 FT /note="P -> PQ (in Ref. 2; AAK00217)" FT /evidence="ECO:0000305" FT CONFLICT 1158..1161 FT /note="DIGA -> GHRR (in Ref. 2; AAK00217)" FT /evidence="ECO:0000305" FT CONFLICT 1537 FT /note="F -> L (in Ref. 7; CAA46439/M91803)" FT /evidence="ECO:0000305" FT HELIX 117..125 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 128..145 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 152..176 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 189..204 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 205..207 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 215..223 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 226..229 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 234..245 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 248..268 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 269..271 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 272..274 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 315..318 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 322..324 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 359..362 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 365..367 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 369..379 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 384..395 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 397..399 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 400..406 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 407..414 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 415..438 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 750..762 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 763..766 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 770..786 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 794..818 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 819..821 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 832..847 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 856..871 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 874..885 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 886..890 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 891..911 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 915..918 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 920..922 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 925..927 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 937..949 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 954..963 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 965..994 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1204..1215 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1218..1233 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1234..1237 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1240..1244 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1246..1248 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1249..1280 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1283..1304 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1312..1315 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1316..1326 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1327..1329 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1331..1341 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1344..1368 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1369..1372 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1375..1378 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1379..1382 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1387..1389 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1393..1401 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1406..1409 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1412..1417 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1418..1430 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1434..1442 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1457..1459 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1460..1466 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1467..1473 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1474..1493 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1504..1514 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1530..1539 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1541..1559 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1567..1594 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1603..1620 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1622..1627 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1632..1638 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1639..1642 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1643..1646 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1647..1651 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1656..1691 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1692..1694 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1703..1709 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1710..1721 FT /evidence="ECO:0007829|PDB:7DTD" FT TURN 1722..1725 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1726..1733 FT /evidence="ECO:0007829|PDB:7DTD" FT STRAND 1748..1751 FT /evidence="ECO:0007829|PDB:7DTD" FT HELIX 1759..1792 FT /evidence="ECO:0007829|PDB:7DTD" SQ SEQUENCE 2009 AA; 228972 MW; 0593A6730F33C9A2 CRC64; MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA ACPPSYDRVT KPIVEKHEQE GKDEKAKGK //