LOCUS       NM_001165963           11940 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens sodium voltage-gated channel alpha subunit 1 (SCN1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001165963
VERSION     NM_001165963.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11940)
  AUTHORS   Katsarou,M.S., Siatouni,A., Tsikrika,D., Kokkiou,E., Stefanatou,M.,
            Verentzioti,A., Alexoudi,A., Gatzonis,S., Drakoulis,N. and
            Papasavva,M.
  TITLE     Association of SCN1A Polymorphisms rs3812718 and rs2298771 with
            Epilepsy
  JOURNAL   Genes (Basel) 15 (9), 1224 (2024)
   PUBMED   39336815
  REMARK    GeneRIF: Association of SCN1A Polymorphisms rs3812718 and rs2298771
            with Epilepsy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 11940)
  AUTHORS   Ogiwara,I., Miyamoto,H., Morita,N., Atapour,N., Mazaki,E.,
            Inoue,I., Takeuchi,T., Itohara,S., Yanagawa,Y., Obata,K.,
            Furuichi,T., Hensch,T.K. and Yamakawa,K.
  TITLE     Nav1.1 localizes to axons of parvalbumin-positive inhibitory
            interneurons: a circuit basis for epileptic seizures in mice
            carrying an Scn1a gene mutation
  JOURNAL   J Neurosci 27 (22), 5903-5914 (2007)
   PUBMED   17537961
  REMARK    GeneRIF: Nav1.1 plays a critical role in the spike output from
            parvalbumin-positive interneurons and contributes to epileptic
            seizures in mice.
REFERENCE   3  (bases 1 to 11940)
  AUTHORS   Mulley,J.C., Scheffer,I.E., Petrou,S., Dibbens,L.M., Berkovic,S.F.
            and Harkin,L.A.
  TITLE     SCN1A mutations and epilepsy
  JOURNAL   Hum Mutat 25 (6), 535-542 (2005)
   PUBMED   15880351
  REMARK    GeneRIF: epilepsy related mutations
            Review article
REFERENCE   4  (bases 1 to 11940)
  AUTHORS   Kanai,K., Hirose,S., Oguni,H., Fukuma,G., Shirasaka,Y.,
            Miyajima,T., Wada,K., Iwasa,H., Yasumoto,S., Matsuo,M., Ito,M.,
            Mitsudome,A. and Kaneko,S.
  TITLE     Effect of localization of missense mutations in SCN1A on epilepsy
            phenotype severity
  JOURNAL   Neurology 63 (2), 329-334 (2004)
   PUBMED   15277629
  REMARK    GeneRIF: Mutations in the pore regions may produce more severe
            channel dysfunction, including activation/inactivation dysfunction
            or abnormal voltage dependency, than those in other transmembrane
            regions, resulting in a more severe epilepsy phenotype.
            Review article
REFERENCE   5  (bases 1 to 11940)
  AUTHORS   Lossin,C., Wang,D.W., Rhodes,T.H., Vanoye,C.G. and George,A.L. Jr.
  TITLE     Molecular basis of an inherited epilepsy
  JOURNAL   Neuron 34 (6), 877-884 (2002)
   PUBMED   12086636
  REMARK    GeneRIF: The effects of three mutations in SCN1A have been
            characterized in cultured mammalian cells as a gain-of-function
            abnormality causing prolonged membrane depolarization, a plausible
            underlying biophysical mechanism responsible for inherited
            epilepsy.
REFERENCE   6  (bases 1 to 11940)
  AUTHORS   Escayg,A., MacDonald,B.T., Meisler,M.H., Baulac,S., Huberfeld,G.,
            An-Gourfinkel,I., Brice,A., LeGuern,E., Moulard,B., Chaigne,D.,
            Buresi,C. and Malafosse,A.
  TITLE     Mutations of SCN1A, encoding a neuronal sodium channel, in two
            families with GEFS+2
  JOURNAL   Nat Genet 24 (4), 343-345 (2000)
   PUBMED   10742094
REFERENCE   7  (bases 1 to 11940)
  AUTHORS   Malo,M.S., Blanchard,B.J., Andresen,J.M., Srivastava,K., Chen,X.N.,
            Li,X., Jabs,E.W., Korenberg,J.R. and Ingram,V.M.
  TITLE     Localization of a putative human brain sodium channel gene (SCN1A)
            to chromosome band 2q24
  JOURNAL   Cytogenet Cell Genet 67 (3), 178-186 (1994)
   PUBMED   8062593
REFERENCE   8  (bases 1 to 11940)
  AUTHORS   Jen,J.C.
  TITLE     Familial Hemiplegic Migraine
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301562
REFERENCE   9  (bases 1 to 11940)
  AUTHORS   Miller,I.O. and Sotero de Menezes,M.A.
  TITLE     SCN1A Seizure Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301494
REFERENCE   10 (bases 1 to 11940)
  AUTHORS   Lu,C.M., Han,J., Rado,T.A. and Brown,G.B.
  TITLE     Differential expression of two sodium channel subtypes in human
            brain
  JOURNAL   FEBS Lett 303 (1), 53-58 (1992)
   PUBMED   1317301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010127.12.
            
            On Feb 24, 2020 this sequence version replaced NM_001165963.3.
            
            Summary: Voltage-dependent sodium channels are heteromeric
            complexes that regulate sodium exchange between intracellular and
            extracellular spaces and are essential for the generation and
            propagation of action potentials in muscle cells and neurons. Each
            sodium channel is composed of a large pore-forming, glycosylated
            alpha subunit and two smaller beta subunits. This gene encodes a
            sodium channel alpha subunit, which has four homologous domains,
            each of which contains six transmembrane regions. Allelic variants
            of this gene are associated with generalized epilepsy with febrile
            seizures and epileptic encephalopathy. Alternative splicing results
            in multiple transcript variants. The RefSeq Project has decided to
            create four representative RefSeq records. Three of the transcript
            variants are supported by experimental evidence and the fourth
            contains alternate 5' untranslated exons, the exact combination of
            which have not been experimentally confirmed for the full-length
            transcript. [provided by RefSeq, Oct 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AB093548.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMN03465402, SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674923.1/ ENSP00000501589.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               AC010127.12        182434-182683       c
            251-337             AC010127.12        181587-181673       c
            338-429             AC010127.12        132373-132464       c
            430-742             AC010127.12        128021-128333       c
            743-861             AC010127.12        113233-113351       c
            862-951             AC010127.12        111074-111163       c
            952-1080            AC010127.12        109301-109429       c
            1081-1172           AC010127.12        107515-107606       c
            1173-1442           AC010127.12        106382-106651       c
            1443-1506           AC010127.12        103549-103612       c
            1507-1648           AC010127.12        102290-102431       c
            1649-1855           AC010127.12        101433-101639       c
            1856-2140           AC010127.12        99706-99990         c
            2141-2521           AC010127.12        98332-98712         c
            2522-2654           AC010127.12        96955-97087         c
            2655-2893           AC010127.12        95894-96132         c
            2894-3067           AC010127.12        94086-94259         c
            3068-3424           AC010127.12        92439-92795         c
            3425-3907           AC010127.12        90711-91193         c
            3908-4028           AC010127.12        70270-70390         c
            4029-4183           AC010127.12        68407-68561         c
            4184-4357           AC010127.12        66772-66945         c
            4358-4480           AC010127.12        64382-64504         c
            4481-4762           AC010127.12        57135-57416         c
            4763-4816           AC010127.12        54386-54439         c
            4817-4954           AC010127.12        52701-52838         c
            4955-5059           AC010127.12        50676-50780         c
            5060-5330           AC010127.12        48809-49079         c
            5331-11940          AC010127.12        40476-47085         c
FEATURES             Location/Qualifiers
     source          1..11940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..11940
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="sodium voltage-gated channel alpha subunit 1"
                     /db_xref="GeneID:6323"
                     /db_xref="HGNC:HGNC:10585"
                     /db_xref="MIM:182389"
     exon            1..250
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            251..337
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            338..429
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            430..742
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     CDS             479..6508
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium channel, voltage-gated, type I, alpha polypeptide;
                     sodium channel protein, brain I alpha subunit; sodium
                     channel protein type 1 subunit alpha; sodium channel,
                     voltage-gated, type I, alpha subunit; sodium channel
                     protein type I subunit alpha; voltage-gated sodium channel
                     subunit alpha Nav1.1; sodium channel voltage gated type 1
                     alpha subunit"
                     /codon_start=1
                     /product="sodium channel protein type 1 subunit alpha
                     isoform 1"
                     /protein_id="NP_001159435.1"
                     /db_xref="CCDS:CCDS54413.1"
                     /db_xref="GeneID:6323"
                     /db_xref="HGNC:HGNC:10585"
                     /db_xref="MIM:182389"
                     /translation="MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDD
                     DENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRF
                     SATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYT
                     FTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTF
                     RVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNK
                     CIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDAL
                     LCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTL
                     RAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQ
                     LKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKE
                     QSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSP
                     RRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQ
                     TSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNG
                     TTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYK
                     FSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNN
                     VLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLS
                     VLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGK
                     SYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVF
                     MMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKI
                     YEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGT
                     GSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLN
                     ESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQW
                     WNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYI
                     FILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
                     LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCIN
                     TTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMD
                     IMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFG
                     GQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILIC
                     LNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFV
                     VVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLP
                     ALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGW
                     DGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAV
                     ILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLP
                     QPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSK
                     VSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKED
                     MIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK"
     exon            743..861
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            862..951
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1080
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1172
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1442
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1506
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1648
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1855
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            1856..2140
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            2141..2521
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            2522..2654
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            2655..2893
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            2894..3067
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            3068..3424
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            3425..3907
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            3908..4028
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4029..4183
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4184..4357
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4358..4480
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4481..4762
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4763..4816
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4817..4954
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            4955..5059
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            5060..5330
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     exon            5331..11940
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      8569..8574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="hexamer: AATAAA"
     polyA_site      8593
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="major polyA site"
     regulatory      11913..11918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="hexamer: AATAAA"
     polyA_site      11940
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /note="major polyA site"
ORIGIN      
        1 accatagagt gaggcgagga tgaagccgag aggatactgc agaggtctct ggtgcatgtg
       61 tgtatgtgtg cgtttgtgtg tgtttgtgtg tctgtgtgtt ctgccccagt gagactgcag
      121 cccttgtaaa tactttgaca ccttttgcaa gaaggaatct gaacaattgc aactgaaggc
      181 acattgttat catctcgtct ttgggtgatg ctgttcctca ctgcagatgg ataattttcc
      241 ttttaatcag aacagcataa gaattatttc tgagtggagg tgaggcttgt ccaaatgtct
      301 ttgctatcat ggatttcctg actcctacct gtttgaggtt tgggcaatta tgaataaggc
      361 tgctgtatac atccgtgtgc aggattttgt gtggacataa gttttcaact cctttggtta
      421 aatcctaagg aatttcatat gcagaataaa tggtaattaa aatgtgcagg atgacaagat
      481 ggagcaaaca gtgcttgtac caccaggacc tgacagcttc aacttcttca ccagagaatc
      541 tcttgcggct attgaaagac gcattgcaga agaaaaggca aagaatccca aaccagacaa
      601 aaaagatgac gacgaaaatg gcccaaagcc aaatagtgac ttggaagctg gaaagaacct
      661 tccatttatt tatggagaca ttcctccaga gatggtgtca gagcccctgg aggacctgga
      721 cccctactat atcaataaga aaacttttat agtattgaat aaagggaagg ccatcttccg
      781 gttcagtgcc acctctgccc tgtacatttt aactcccttc aatcctctta ggaaaatagc
      841 tattaagatt ttggtacatt cattattcag catgctaatt atgtgcacta ttttgacaaa
      901 ctgtgtgttt atgacaatga gtaaccctcc tgattggaca aagaatgtag aatacacctt
      961 cacaggaata tatacttttg aatcacttat aaaaattatt gcaaggggat tctgtttaga
     1021 agattttact ttccttcggg atccatggaa ctggctcgat ttcactgtca ttacatttgc
     1081 gtacgtcaca gagtttgtgg acctgggcaa tgtctcggca ttgagaacat tcagagttct
     1141 ccgagcattg aagacgattt cagtcattcc aggcctgaaa accattgtgg gagccctgat
     1201 ccagtctgtg aagaagctct cagatgtaat gatcctgact gtgttctgtc tgagcgtatt
     1261 tgctctaatt gggctgcagc tgttcatggg caacctgagg aataaatgta tacaatggcc
     1321 tcccaccaat gcttccttgg aggaacatag tatagaaaag aatataactg tgaattataa
     1381 tggtacactt ataaatgaaa ctgtctttga gtttgactgg aagtcatata ttcaagattc
     1441 aagatatcat tatttcctgg agggtttttt agatgcacta ctatgtggaa atagctctga
     1501 tgcaggccaa tgtccagagg gatatatgtg tgtgaaagct ggtagaaatc ccaattatgg
     1561 ctacacaagc tttgatacct tcagttgggc ttttttgtcc ttgtttcgac taatgactca
     1621 ggacttctgg gaaaatcttt atcaactgac attacgtgct gctgggaaaa cgtacatgat
     1681 attttttgta ttggtcattt tcttgggctc attctaccta ataaatttga tcctggctgt
     1741 ggtggccatg gcctacgagg aacagaatca ggccaccttg gaagaagcag aacagaaaga
     1801 ggccgaattt cagcagatga ttgaacagct taaaaagcaa caggaggcag ctcagcaggc
     1861 agcaacggca actgcctcag aacattccag agagcccagt gcagcaggca ggctctcaga
     1921 cagctcatct gaagcctcta agttgagttc caagagtgct aaggaaagaa gaaatcggag
     1981 gaagaaaaga aaacagaaag agcagtctgg tggggaagag aaagatgagg atgaattcca
     2041 aaaatctgaa tctgaggaca gcatcaggag gaaaggtttt cgcttctcca ttgaagggaa
     2101 ccgattgaca tatgaaaaga ggtactcctc cccacaccag tctttgttga gcatccgtgg
     2161 ctccctattt tcaccaaggc gaaatagcag aacaagcctt ttcagcttta gagggcgagc
     2221 aaaggatgtg ggatctgaga acgacttcgc agatgatgag cacagcacct ttgaggataa
     2281 cgagagccgt agagattcct tgtttgtgcc ccgacgacac ggagagagac gcaacagcaa
     2341 cctgagtcag accagtaggt catcccggat gctggcagtg tttccagcga atgggaagat
     2401 gcacagcact gtggattgca atggtgtggt ttccttggtt ggtggacctt cagttcctac
     2461 atcgcctgtt ggacagcttc tgccagaggt gataatagat aagccagcta ctgatgacaa
     2521 tggaacaacc actgaaactg aaatgagaaa gagaaggtca agttctttcc acgtttccat
     2581 ggactttcta gaagatcctt cccaaaggca acgagcaatg agtatagcca gcattctaac
     2641 aaatacagta gaagaacttg aagaatccag gcagaaatgc ccaccctgtt ggtataaatt
     2701 ttccaacata ttcttaatct gggactgttc tccatattgg ttaaaagtga aacatgttgt
     2761 caacctggtt gtgatggacc catttgttga cctggccatc accatctgta ttgtcttaaa
     2821 tactcttttc atggccatgg agcactatcc aatgacggac catttcaata atgtgcttac
     2881 agtaggaaac ttggttttca ctgggatctt tacagcagaa atgtttctga aaattattgc
     2941 catggatcct tactattatt tccaagaagg ctggaatatc tttgacggtt ttattgtgac
     3001 gcttagcctg gtagaacttg gactcgccaa tgtggaagga ttatctgttc tccgttcatt
     3061 tcgattgctg cgagttttca agttggcaaa atcttggcca acgttaaata tgctaataaa
     3121 gatcatcggc aattccgtgg gggctctggg aaatttaacc ctcgtcttgg ccatcatcgt
     3181 cttcattttt gccgtggtcg gcatgcagct ctttggtaaa agctacaaag attgtgtctg
     3241 caagatcgcc agtgattgtc aactcccacg ctggcacatg aatgacttct tccactcctt
     3301 cctgattgtg ttccgcgtgc tgtgtgggga gtggatagag accatgtggg actgtatgga
     3361 ggttgctggt caagccatgt gccttactgt cttcatgatg gtcatggtga ttggaaacct
     3421 agtggtcctg aatctctttc tggccttgct tctgagctca tttagtgcag acaaccttgc
     3481 agccactgat gatgataatg aaatgaataa tctccaaatt gctgtggata ggatgcacaa
     3541 aggagtagct tatgtgaaaa gaaaaatata tgaatttatt caacagtcct tcattaggaa
     3601 acaaaagatt ttagatgaaa ttaaaccact tgatgatcta aacaacaaga aagacagttg
     3661 tatgtccaat catacagcag aaattgggaa agatcttgac tatcttaaag atgtaaatgg
     3721 aactacaagt ggtataggaa ctggcagcag tgttgaaaaa tacattattg atgaaagtga
     3781 ttacatgtca ttcataaaca accccagtct tactgtgact gtaccaattg ctgtaggaga
     3841 atctgacttt gaaaatttaa acacggaaga ctttagtagt gaatcggatc tggaagaaag
     3901 caaagagaaa ctgaatgaaa gcagtagctc atcagaaggt agcactgtgg acatcggcgc
     3961 acctgtagaa gaacagcccg tagtggaacc tgaagaaact cttgaaccag aagcttgttt
     4021 cactgaaggc tgtgtacaaa gattcaagtg ttgtcaaatc aatgtggaag aaggcagagg
     4081 aaaacaatgg tggaacctga gaaggacgtg tttccgaata gttgaacata actggtttga
     4141 gaccttcatt gttttcatga ttctccttag tagtggtgct ctggcatttg aagatatata
     4201 tattgatcag cgaaagacga ttaagacgat gttggaatat gctgacaagg ttttcactta
     4261 cattttcatt ctggaaatgc ttctaaaatg ggtggcatat ggctatcaaa catatttcac
     4321 caatgcctgg tgttggctgg acttcttaat tgttgatgtt tcattggtca gtttaacagc
     4381 aaatgccttg ggttactcag aacttggagc catcaaatct ctcaggacac taagagctct
     4441 gagacctcta agagccttat ctcgatttga agggatgagg gtggttgtga atgccctttt
     4501 aggagcaatt ccatccatca tgaatgtgct tctggtttgt cttatattct ggctaatttt
     4561 cagcatcatg ggcgtaaatt tgtttgctgg caaattctac cactgtatta acaccacaac
     4621 tggtgacagg tttgacatcg aagacgtgaa taatcatact gattgcctaa aactaataga
     4681 aagaaatgag actgctcgat ggaaaaatgt gaaagtaaac tttgataatg taggatttgg
     4741 gtatctctct ttgcttcaag ttgccacatt caaaggatgg atggatataa tgtatgcagc
     4801 agttgattcc agaaatgtgg aactccagcc taagtatgaa gaaagtctgt acatgtatct
     4861 ttactttgtt attttcatca tctttgggtc cttcttcacc ttgaacctgt ttattggtgt
     4921 catcatagat aatttcaacc agcagaaaaa gaagtttgga ggtcaagaca tctttatgac
     4981 agaagaacag aagaaatact ataatgcaat gaaaaaatta ggatcgaaaa aaccgcaaaa
     5041 gcctatacct cgaccaggaa acaaatttca aggaatggtc tttgacttcg taaccagaca
     5101 agtttttgac ataagcatca tgattctcat ctgtcttaac atggtcacaa tgatggtgga
     5161 aacagatgac cagagtgaat atgtgactac cattttgtca cgcatcaatc tggtgttcat
     5221 tgtgctattt actggagagt gtgtactgaa actcatctct ctacgccatt attattttac
     5281 cattggatgg aatatttttg attttgtggt tgtcattctc tccattgtag gtatgtttct
     5341 tgccgagctg atagaaaagt atttcgtgtc ccctaccctg ttccgagtga tccgtcttgc
     5401 taggattggc cgaatcctac gtctgatcaa aggagcaaag gggatccgca cgctgctctt
     5461 tgctttgatg atgtcccttc ctgcgttgtt taacatcggc ctcctactct tcctagtcat
     5521 gttcatctac gccatctttg ggatgtccaa ctttgcctat gttaagaggg aagttgggat
     5581 cgatgacatg ttcaactttg agacctttgg caacagcatg atctgcctat tccaaattac
     5641 aacctctgct ggctgggatg gattgctagc acccattctc aacagtaagc cacccgactg
     5701 tgaccctaat aaagttaacc ctggaagctc agttaaggga gactgtggga acccatctgt
     5761 tggaattttc ttttttgtca gttacatcat catatccttc ctggttgtgg tgaacatgta
     5821 catcgcggtc atcctggaga acttcagtgt tgctactgaa gaaagtgcag agcctctgag
     5881 tgaggatgac tttgagatgt tctatgaggt ttgggagaag tttgatcccg atgcaactca
     5941 gttcatggaa tttgaaaaat tatctcagtt tgcagctgcg cttgaaccgc ctctcaatct
     6001 gccacaacca aacaaactcc agctcattgc catggatttg cccatggtga gtggtgaccg
     6061 gatccactgt cttgatatct tatttgcttt tacaaagcgg gttctaggag agagtggaga
     6121 gatggatgct ctacgaatac agatggaaga gcgattcatg gcttccaatc cttccaaggt
     6181 ctcctatcag ccaatcacta ctactttaaa acgaaaacaa gaggaagtat ctgctgtcat
     6241 tattcagcgt gcttacagac gccacctttt aaagcgaact gtaaaacaag cttcctttac
     6301 gtacaataaa aacaaaatca aaggtggggc taatcttctt ataaaagaag acatgataat
     6361 tgacagaata aatgaaaact ctattacaga aaaaactgat ctgaccatgt ccactgcagc
     6421 ttgtccacct tcctatgacc gggtgacaaa gccaattgtg gaaaaacatg agcaagaagg
     6481 caaagatgaa aaagccaaag ggaaataaat gaaaataaat aaaaataatt gggtgacaaa
     6541 ttgtttacag cctgtgaagg tgatgtattt ttatcaacag gactccttta ggaggtcaat
     6601 gccaaactga ctgtttttac acaaatctcc ttaaggtcag tgcctacaat aagacagtga
     6661 ccccttgtca gcaaactgtg actctgtgta aaggggagat gaccttgaca ggaggttact
     6721 gttctcacta ccagctgaca ctgctgaaga taagatgcac aatggctagt cagactgtag
     6781 ggaccagttt caaggggtgc aaacctgtga ttttggggtt gtttaacatg aaacacttta
     6841 gtgtagtaat tgtatccact gtttgcattt caactgccac atttgtcaca tttttatgga
     6901 atctgttagt ggattcatct ttttgttaat ccatgtgttt attatatgtg actatttttg
     6961 taaacgaagt ttctgttgag aaataggcta aggacctcta taacaggtat gccacctggg
     7021 gggtatggca accacatggc cctcccagct acacaaagtc gtggtttgca tgagggcatg
     7081 ctgcacttag agatcatgca tgagaaaaag tcacaagaaa aacaaattct taaatttcac
     7141 catatttctg ggaggggtaa ttgggtgata agtggaggtg ctttgttgat cttgttttgc
     7201 gaaatccagc ccctagacca agtagattat ttgtgggtag gccagtaaat cttagcaggt
     7261 gcaaacttca ttcaaatgtt tggagtcata aatgttatgt ttctttttgt tgtattaaaa
     7321 aaaaaacctg aatagtgaat attgcccctc accctccacc gccagaagac tgaattgacc
     7381 aaaattactc tttataaatt tctgcttttt cctgcacttt gtttagccat cttcggctct
     7441 cagcaaggtt gacactgtat atgttaatga aatgctattt attatgtaaa tagtcatttt
     7501 accctgtggt gcacgtttga gcaaacaaat aatgacctaa gcacagtatt tattgcatca
     7561 aatatgtacc acaagaaatg tagagtgcaa gctttacaca ggtaataaaa tgtattctgt
     7621 accatttata gatagtttgg atgctatcaa tgcatgttta tattaccatg ctgctgtatc
     7681 tggtttctct cactgctcag aatctcattt atgagaaacc atatgtcagt ggtaaagtca
     7741 aggaaattgt tcaacagatc tcatttattt aagtcattaa gcaatagttt gcagcacttt
     7801 aacagctttt tggttatttt tacattttaa gtggataaca tatggtatat agccagactg
     7861 tacagacatg tttaaaaaaa cacactgctt aacctattaa atatgtgttt agaattttat
     7921 aagcaaatat aaatactgta aaaagtcact ttattttatt tttcagcatt atgtacataa
     7981 atatgaagag gaaattatct tcaggttgat atcacaatca cttttcttac tttctgtcca
     8041 tagtactttt tcatgaaaga aatttgctaa ataagacatg aaaacaagac tgggtagttg
     8101 tagatttctg ctttttaaat tacatttgct aattttagat tatttcacaa ttttaaggag
     8161 caaaataggt tcacgattca tatccaaatt atgctttgca attggaaaag ggtttaaaat
     8221 tttatttata tttctggtag tacctgcact aactgaattg aaggtagtgc ttatgttatt
     8281 tttgttcttt ttttctgact tcggtttatg ttttcatttc tttggagtaa tgctgctcta
     8341 gattgttcta aatagaatgt gggcttcata attttttttt ccacaaaaac agagtagtca
     8401 acttatatag tcaattacat caggacattt tgtgtttctt acagaagcaa accataggct
     8461 cctcttttcc ttaaaactac ttagataaac tgtattcgtg aactgcatgc tggaaaatgc
     8521 tactattatg ctaaataatg ctaaccaaca tttaaaatgt gcaaaactaa taaagattac
     8581 attttttatt ttattgtttg cccagtcact ttttgttaac agaatattct aatgatatgg
     8641 agatttttta cattacaaat tgggggagaa ggggagcgcg cgcgcacaca cacacacaca
     8701 cacacacaca cacacacaca cacagaggca tacccacgtt gacaacaaaa cctagggtag
     8761 atatgtcact ggaggtaggg ggtaatgacc tcccagaatt acaagcagca ggtgtgttct
     8821 ctgttaggag gaagaactgg tgtcagagga tagctagtga ttctaggagg aagagaagta
     8881 tggaagccag agtgatggtg gatgacccct tgagctatga aaagaaaccc ttaaatcatc
     8941 atttaaaaat ttagaattgc catgtgtgta ggatactgtg tttgctcctc cagagccact
     9001 ctctctgctt ctgcatcatt ctgtgtgtcc cagaagggtg acttctacac attgcaaaaa
     9061 tgggctctcc tacctttgag ctcccaattg gtttggccaa tgagaagcac cagtgggaaa
     9121 gcaccagaga gagaagattg acataggaat atttcttctc caattccttc tttgctgggt
     9181 tggcactgga ctcattcctc cccgaaaagt catactccaa tcagactgcc cctcatacaa
     9241 ctgaagctac tttctctggg gtcaggtaat cactcctccc cttgctcctt caggtctgct
     9301 gctgcattga gagtgctttt gtattccttg tagctttctc ctaacattgc tgacactttt
     9361 gtaaatgtcc ccttcatgaa attcttctat atgcctcatt tcagcatgcc atctgtctcc
     9421 tgcctggctg acacaaggtg attcaacagc tcatgaaagt cagcaggaag caaagatgtg
     9481 ccttgcttca gcttggggtc ttaatcttgc taacttttgc agataaagaa aaacagtaac
     9541 tgggggaacc acagtgaagt ccagtgcaga attcacagat atcatggaaa ggttactcgg
     9601 gtggtccaga tagtaaaatt aacagtctaa attaatctat ctaaatttct gaggaacgag
     9661 aagccttccc ttgtcatcag gtgaagccag aagagggaat atagcctcaa ccagaaaagg
     9721 gacagtaatt aaaaggcttt tcccatcctt gtacaatgga ctgactttgc ctcttcataa
     9781 catcacaatc ctaaagcaac acaacaatta attctgatat attagtagct gaaaaaaatt
     9841 cccatttcca actaaggtag gtcagaatta taggataaac cctgcagact ttttatacta
     9901 cccatccacg ccattactca ctgttacctt tccaaataca aagagaagaa ctggtaaaac
     9961 ataatcatat aaatctccat attcattttg aaatatttgg catgatattt tctgtgctaa
    10021 aaagtaatta ttcttcaaag aatgatgagg tcatgtcagt aagacacagg aaccaactag
    10081 aaggggcttc ccactggcca aatctggggc aagttgagca tcaaaataaa tgatagtaaa
    10141 agattataat tcattgaata agaatcagca aatacatact gatgtaagta aataaggaaa
    10201 agtacaaatc tgtttcttgc agttgaatgt taattaacaa ttgtagaaga aataacggag
    10261 ttagaaaaat cactatttgg caatcaccct aatgacaatt gattcataca agaatcatca
    10321 atgagtatta aaactcatgg gtgaaagttt gatgaggaat agggtattta tagcatctta
    10381 aagtatctct tctctattaa gtagaaaatt taaacagaag aaagtatact ttggagaaat
    10441 acagcagaca ataccttcaa agatatcatc aattatgaga ccaactgata ctatgtgcct
    10501 cctgataaga tatactgaaa gggccacatt acttcttggt acacagtcaa aattttaaaa
    10561 ccagaatcta actacaagga aaatcaaatt gaggacactc tataaaataa gtggactgaa
    10621 ctccttaaaa atgtcaatgt catgaaagac aaagaaaggc taaagaattc catgaggtca
    10681 aagaactatg acaactaaac acaattctgg atggaatatc aaattaaaaa ataacagata
    10741 aataatatta ttgggaaagt tgaataaatt tgaatatgga ctgtttatta gttattagta
    10801 ttataatagt gttaattttc ctaattttgt taagactagt gtgcctgttc catgaaaata
    10861 gaaaatgttc ttattctctg aaaatgcatg ctaaagtatt taggggtgaa tgcaacaatg
    10921 tctgcagctc attcttgaat cagttcaaag aaaaatgagt tacatttata tatatatgta
    10981 tgtatgtaaa cagacataga taaaagtata gatgtgtgtg tgtctttaga aaggggagga
    11041 tttttttttt ttttttgctg tgtgttactg aagtgcctat gtctgcgtgt tcacactatc
    11101 atattttgta tgccctggac tttataattt ctaccttcaa aattagatct actgttggta
    11161 attaattcaa tatatactgg ttttttaact actattctca tttcctagca gtaatcttcc
    11221 tgaaaagtca cagaaatgat tacattcctt gttcttcata ataatcactg tttaattaaa
    11281 ataagaatat tttagaaaag atctgcggca tagtggttaa gaccccagta tttgatgcta
    11341 aacagatctg atttggataa cagaaggtgg cactttgctg tttaagctgg ggaccagaca
    11401 ctgtgggtat aaatagtaat tccaaacaca gctccacaga gcagcaccct tatgacaagg
    11461 ttttcatatg tctatagtta agccagaaaa ttaagaataa tgccataaat atttataaag
    11521 ctgaacatat ccaagttaaa gacctttatc ctgaaattgt atcttttaga ttattttcta
    11581 aagactaata ccatttaatg tttaaatgtt ctttggaaat gatggtgaga atacgtgata
    11641 atgggtcatt ggttttaata ttttatttag ccaagtggaa aattggcaac ctggtgtcgg
    11701 tcctcccatt tgtattttac tggtgcatga aatccaaaag tctagtaacc attgggacag
    11761 acaactctac tgcataagtt tgtatgtttg tatatctgta tcacaaagcc cagacactcg
    11821 aactatataa acttgtcgca ctaaagacag caaatatgtc tggtaattgc atattcttca
    11881 tgtgtgcact ggaatttctt attatataag aaaataaatg tgtttctaaa ccaccatgaa
//
