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NameSodium channel protein type 1 subunit alpha
Synonyms
  • NAC1
  • SCN1
  • Sodium channel protein brain I subunit alpha
  • Sodium channel protein type I subunit alpha
  • Voltage-gated sodium channel subunit alpha Nav1.1
Gene NameSCN1A
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000281|Sodium channel protein type 1 subunit alpha
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK
Number of residues2009
Molecular Weight228969.49
Theoretical pI5.53
GO Classification
Functions
  • voltage-gated sodium channel activity
Processes
  • membrane depolarization during action potential
  • neuronal action potential
  • adult walking behavior
  • neuromuscular process controlling posture
  • neuronal action potential propagation
  • positive regulation of defense response to virus by host
  • sodium ion transport
  • xenophagy
  • sodium ion transmembrane transport
Components
  • Z disc
  • neuronal cell body
  • axon initial segment
  • node of Ranvier
  • voltage-gated sodium channel complex
  • plasma membrane
  • intercalated disc
  • T-tubule
General FunctionVoltage-gated sodium channel activity
Specific FunctionMediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
Pfam Domain Function
Transmembrane Regions124-147 156-175 189-207 214-233 250-273 400-425 763-787 799-822 831-850 857-876 893-913 967-992 1214-1237 1251-1276 1283-1304 1309-1330 1350-1377 1457-1483 1537-1560 1572-1595 1602-1625 1636-1657 1673-1695 1762-1786
GenBank Protein ID12642270
UniProtKB IDP35498
UniProtKB Entry NameSCN1A_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0010177|Sodium channel protein type 1 subunit alpha (SCN1A)
ATGGAGCAAACAGTGCTTGTACCACCAGGACCTGACAGCTTCAACTTCTTCACCAGAGAA
TCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAGAATCCCAAACCAGAC
AAAAAAGATGACGACGAAAATGGCCCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAAC
CTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTG
GACCCCTACTATATCAATAAGAAAACTTTTATAGTATTGAATAAAGGGAAGGCCATCTTC
CGGTTCAGTGCCACCTCTGCCCTGTACATTTTAACTCCCTTCAATCCTCTTAGGAAAATA
GCTATTAAGATTTTGGTACATTCATTATTCAGCATGCTAATTATGTGCACTATTTTGACA
AACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAAGAATGTAGAATACACC
TTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCAAGGGGATTCTGTTTA
GAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTT
GCGTACGTCACAGAGTTTGTGGACCTGGGCAATGTCTCGGCATTGAGAACATTCAGAGTT
CTCCGAGCATTGAAGACGATTTCAGTCATTCCAGGCCTGAAAACCATTGTGGGAGCCCTG
ATCCAGTCTGTGAAGAAGCTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTA
TTTGCTCTAATTGGGCTGCAGCTGTTCATGGGCAACCTGAGGAATAAATGTATACAATGG
CCTCCCACCAATGCTTCCTTGGAGGAACATAGTATAGAAAAGAATATAACTGTGAATTAT
AATGGTACACTTATAAATGAAACTGTCTTTGAGTTTGACTGGAAGTCATATATTCAAGAT
TCAAGATATCATTATTTCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCT
GATGCAGGCCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTAT
GGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACT
CAGGACTTCTGGGAAAATCTTTATCAACTGACATTACGTGCTGCTGGGAAAACGTACATG
ATATTTTTTGTATTGGTCATTTTCTTGGGCTCATTCTACCTAATAAATTTGATCCTGGCT
GTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGAAGCAGAACAGAAA
GAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAGCAG
GCAGCAACGGCAACTGCCTCAGAACATTCCAGAGAGCCCAGTGCAGCAGGCAGGCTCTCA
GACAGCTCATCTGAAGCCTCTAAGTTGAGTTCCAAGAGTGCTAAGGAAAGAAGAAATCGG
AGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAGATGAGGATGAATTC
CAAAAATCTGAATCTGAGGACAGCATCAGGAGGAAAGGTTTTCGCTTCTCCATTGAAGGG
AACCGATTGACATATGAAAAGAGGTACTCCTCCCCACACCAGTCTTTGTTGAGCATCCGT
GGCTCCCTATTTTCACCAAGGCGAAATAGCAGAACAAGCCTTTTCAGCTTTAGAGGGCGA
GCAAAGGATGTGGGATCTGAGAACGACTTCGCAGATGATGAGCACAGCACCTTTGAGGAT
AACGAGAGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGC
AACCTGAGTCAGACCAGTAGGTCATCCCGGATGCTGGCAGTGTTTCCAGCGAATGGGAAG
ATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTTGGTGGACCTTCAGTTCCT
ACATCGCCTGTTGGACAGCTTCTGCCAGAGGTGATAATAGATAAGCCAGCTACTGATGAC
AATGGAACAACCACTGAAACTGAAATGAGAAAGAGAAGGTCAAGTTCTTTCCACGTTTCC
ATGGACTTTCTAGAAGATCCTTCCCAAAGGCAACGAGCAATGAGTATAGCCAGCATTCTA
ACAAATACAGTAGAAGAACTTGAAGAATCCAGGCAGAAATGCCCACCCTGTTGGTATAAA
TTTTCCAACATATTCTTAATCTGGGACTGTTCTCCATATTGGTTAAAAGTGAAACATGTT
GTCAACCTGGTTGTGATGGACCCATTTGTTGACCTGGCCATCACCATCTGTATTGTCTTA
AATACTCTTTTCATGGCCATGGAGCACTATCCAATGACGGACCATTTCAATAATGTGCTT
ACAGTAGGAAACTTGGTTTTCACTGGGATCTTTACAGCAGAAATGTTTCTGAAAATTATT
GCCATGGATCCTTACTATTATTTCCAAGAAGGCTGGAATATCTTTGACGGTTTTATTGTG
ACGCTTAGCCTGGTAGAACTTGGACTCGCCAATGTGGAAGGATTATCTGTTCTCCGTTCA
TTTCGATTGCTGCGAGTTTTCAAGTTGGCAAAATCTTGGCCAACGTTAAATATGCTAATA
AAGATCATCGGCAATTCCGTGGGGGCTCTGGGAAATTTAACCCTCGTCTTGGCCATCATC
GTCTTCATTTTTGCCGTGGTCGGCATGCAGCTCTTTGGTAAAAGCTACAAAGATTGTGTC
TGCAAGATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCTTCCACTCC
TTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAGACCATGTGGGACTGTATG
GAGGTTGCTGGTCAAGCCATGTGCCTTACTGTCTTCATGATGGTCATGGTGATTGGAAAC
CTAGTGGTCCTGAATCTCTTTCTGGCCTTGCTTCTGAGCTCATTTAGTGCAGACAACCTT
GCAGCCACTGATGATGATAATGAAATGAATAATCTCCAAATTGCTGTGGATAGGATGCAC
AAAGGAGTAGCTTATGTGAAAAGAAAAATATATGAATTTATTCAACAGTCCTTCATTAGG
AAACAAAAGATTTTAGATGAAATTAAACCACTTGATGATCTAAACAACAAGAAAGACAGT
TGTATGTCCAATCATACAGCAGAAATTGGGAAAGATCTTGACTATCTTAAAGATGTAAAT
GGAACTACAAGTGGTATAGGAACTGGCAGCAGTGTTGAAAAATACATTATTGATGAAAGT
GATTACATGTCATTCATAAACAACCCCAGTCTTACTGTGACTGTACCAATTGCTGTAGGA
GAATCTGACTTTGAAAATTTAAACACGGAAGACTTTAGTAGTGAATCGGATCTGGAAGAA
AGCAAAGAGAAACTGAATGAAAGCAGTAGCTCATCAGAAGGTAGCACTGTGGACATCGGC
GCACCTGTAGAAGAACAGCCCGTAGTGGAACCTGAAGAAACTCTTGAACCAGAAGCTTGT
TTCACTGAAGGCTGTGTACAAAGATTCAAGTGTTGTCAAATCAATGTGGAAGAAGGCAGA
GGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCCGAATAGTTGAACATAACTGGTTT
GAGACCTTCATTGTTTTCATGATTCTCCTTAGTAGTGGTGCTCTGGCATTTGAAGATATA
TATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAATATGCTGACAAGGTTTTCACT
TACATTTTCATTCTGGAAATGCTTCTAAAATGGGTGGCATATGGCTATCAAACATATTTC
ACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGATGTTTCATTGGTCAGTTTAACA
GCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCT
CTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGGGTGGTTGTGAATGCCCTT
TTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATT
TTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACA
ACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATA
GAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTT
GGGTATCTCTCTTTGCTTCAAGTTGCCACATTCAAAGGATGGATGGATATAATGTATGCA
GCAGTTGATTCCAGAAATGTGGAACTCCAGCCTAAGTATGAAGAAAGTCTGTACATGTAT
CTTTACTTTGTTATTTTCATCATCTTTGGGTCCTTCTTCACCTTGAACCTGTTTATTGGT
GTCATCATAGATAATTTCAACCAGCAGAAAAAGAAGTTTGGAGGTCAAGACATCTTTATG
ACAGAAGAACAGAAGAAATACTATAATGCAATGAAAAAATTAGGATCGAAAAAACCGCAA
AAGCCTATACCTCGACCAGGAAACAAATTTCAAGGAATGGTCTTTGACTTCGTAACCAGA
CAAGTTTTTGACATAAGCATCATGATTCTCATCTGTCTTAACATGGTCACAATGATGGTG
GAAACAGATGACCAGAGTGAATATGTGACTACCATTTTGTCACGCATCAATCTGGTGTTC
ATTGTGCTATTTACTGGAGAGTGTGTACTGAAACTCATCTCTCTACGCCATTATTATTTT
ACCATTGGATGGAATATTTTTGATTTTGTGGTTGTCATTCTCTCCATTGTAGGTATGTTT
CTTGCCGAGCTGATAGAAAAGTATTTCGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTT
GCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGGGATCCGCACGCTGCTC
TTTGCTTTGATGATGTCCCTTCCTGCGTTGTTTAACATCGGCCTCCTACTCTTCCTAGTC
ATGTTCATCTACGCCATCTTTGGGATGTCCAACTTTGCCTATGTTAAGAGGGAAGTTGGG
ATCGATGACATGTTCAACTTTGAGACCTTTGGCAACAGCATGATCTGCCTATTCCAAATT
ACAACCTCTGCTGGCTGGGATGGATTGCTAGCACCCATTCTCAACAGTAAGCCACCCGAC
TGTGACCCTAATAAAGTTAACCCTGGAAGCTCAGTTAAGGGAGACTGTGGGAACCCATCT
GTTGGAATTTTCTTTTTTGTCAGTTACATCATCATATCCTTCCTGGTTGTGGTGAACATG
TACATCGCGGTCATCCTGGAGAACTTCAGTGTTGCTACTGAAGAAAGTGCAGAGCCTCTG
AGTGAGGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCGATGCAACT
CAGTTCATGGAATTTGAAAAATTATCTCAGTTTGCAGCTGCGCTTGAACCGCCTCTCAAT
CTGCCACAACCAAACAAACTCCAGCTCATTGCCATGGATTTGCCCATGGTGAGTGGTGAC
CGGATCCACTGTCTTGATATCTTATTTGCTTTTACAAAGCGGGTTCTAGGAGAGAGTGGA
GAGATGGATGCTCTACGAATACAGATGGAAGAGCGATTCATGGCTTCCAATCCTTCCAAG
GTCTCCTATCAGCCAATCACTACTACTTTAAAACGAAAACAAGAGGAAGTATCTGCTGTC
ATTATTCAGCGTGCTTACAGACGCCACCTTTTAAAGCGAACTGTAAAACAAGCTTCCTTT
ACGTACAATAAAAACAAAATCAAAGGTGGGGCTAATCTTCTTATAAAAGAAGACATGATA
ATTGACAGAATAAATGAAAACTCTATTACAGAAAAAACTGATCTGACCATGTCCACTGCA
GCTTGTCCACCTTCCTATGACCGGGTGACAAAGCCAATTGTGGAAAAACATGAGCAAGAA
GGCAAAGATGAAAAAGCCAAAGGGAAATAA
GenBank Gene IDAF225985
GeneCard IDNot Available
GenAtlas IDSCN1A
HGNC IDHGNC:10585
Chromosome Location2
Locus2q24.3
References
  1. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000 Apr;24(4):343-5. 10742094
  2. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 15815621
  3. Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM: Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenet Cell Genet. 1994;67(3):178-86. 8062593
  4. Lu CM, Han J, Rado TA, Brown GB: Differential expression of two sodium channel subtypes in human brain. FEBS Lett. 1992 May 25;303(1):53-8. 1317301
  5. Wang C, Wang C, Hoch EG, Pitt GS: Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels. J Biol Chem. 2011 Jul 8;286(27):24253-63. doi: 10.1074/jbc.M111.245803. Epub 2011 May 12. 21566136
  6. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF: Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2001 Apr;68(4):859-65. Epub 2001 Mar 13. 11254444
  7. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH: A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am J Hum Genet. 2001 Apr;68(4):866-73. Epub 2001 Mar 14. 11254445
  8. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15. 11359211
  9. Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K: Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 2001 Aug 28;57(4):703-5. 11524484
  10. Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL Jr: Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 2001 Dec 26;57(12):2265-72. 11756608
  11. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K: Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23. 12083760
  12. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 2003 Mar;126(Pt 3):531-46. 12566275
  13. Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Ciro Candiano IC, Romeo N, De Marco EV, Ventura P, LePiane E, Zappia M, Aguglia U, Pavone L, Quattrone A: Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. Epilepsia. 2003 Sep;44(9):1257-8. 12919402
  14. Cossette P, Loukas A, Lafreniere RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA: Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res. 2003 Feb;53(1-2):107-17. 12576172
  15. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P: De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat. 2003 Jun;21(6):615-21. 12754708
  16. Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL Jr: Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci. 2003 Dec 10;23(36):11289-95. 14672992
  17. Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH: Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003 Feb;8(2):186-94. 12610651
  18. Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallee L, Dagna Bricarelli F, Bianchi A, Zara F: Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology. 2003 Jun 24;60(12):1961-7. 12821740
  19. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE: Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. 2003 Sep 23;61(6):765-9. 14504318
  20. Spampanato J, Escayg A, Meisler MH, Goldin AL: Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience. 2003;116(1):37-48. 12535936
  21. Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S: Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 2004 Feb;45(2):140-8. 14738421
  22. Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH: A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci. 2004 Nov 3;24(44):10022-34. 15525788
  23. Ceulemans BP, Claes LR, Lagae LG: Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol. 2004 Apr;30(4):236-43. 15087100
  24. Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M: A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev. 2005 Sep;27(6):424-30. Epub 2005 Jan 12. 16122630
  25. Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K: A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. Epilepsy Res. 2005 Feb;63(2-3):151-6. 15715999
  26. Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr: Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol. 2005 Dec 1;569(Pt 2):433-45. Epub 2005 Oct 6. 16210358
  27. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM: Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7. 16054936
  28. Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Muller U, Neubauer BA: SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. 2005 Jun;36(3):210-3. 15944908
  29. Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A: Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. Epub 2005 Dec 2. 16326807
  30. Pineda-Trujillo N, Carrizosa J, Cornejo W, Arias W, Franco C, Cabrera D, Bedoya G, Ruiz-Linares A: A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree. Seizure. 2005 Mar;14(2):123-8. 15694566
  31. Stefanaki E, Aggelakou V, Orfanou M, Kokori E, Boutoufianakis S: Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. Acta Paediatr. 2006 Dec;95(12):1703-6. 17129991
  32. Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia. 2006 Oct;47(10):1629-35. 17054684
  33. Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr: Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia. 2006 Oct;47(10):1636-42. 17054685
  34. Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A: An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J Neurosci. 2006 Mar 8;26(10):2714-23. 16525050
  35. Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE: De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol. 2006 Jun;5(6):488-92. 16713920
  36. Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A: Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr Neurol. 2006 Feb;34(2):116-20. 16458823
  37. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE: The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 2007 Mar;130(Pt 3):843-52. 17347258
  38. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R: Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11. 17561957
  39. Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K: Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res. 2007 Jun;75(1):46-51. Epub 2007 May 15. 17507202
  40. Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M: The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. Hum Mutat. 2007 May;28(5):522. 17397047
  41. Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P: SCN1A mutation associated with atypical Panayiotopoulos syndrome. Neurology. 2007 Aug 7;69(6):609-11. 17679682
  42. Okumura A, Kurahashi H, Hirose S, Okawa N, Watanabe K: Focal epilepsy resulting from a de novo SCN1A mutation. Neuropediatrics. 2007 Oct;38(5):253-6. doi: 10.1055/s-2008-1062703. 18330841
  43. Gargus JJ, Tournay A: Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007 Dec;37(6):407-10. 18021921
  44. Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE: Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. Acta Neurol Scand. 2008 Apr;117(4):289-92. Epub 2007 Oct 10. 17927801
  45. Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT: Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489. 18413471
  46. Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, Makoff A: Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia. 2008 Feb;49(2):360-5. doi: 10.1111/j.1528-1167.2007.01439_2.x. 18251839
  47. Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y: Rasmussen encephalitis associated with SCN 1 A mutation. Epilepsia. 2008 Mar;49(3):521-6. Epub 2007 Nov 21. 18031552
  48. Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X: SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. J Hum Genet. 2008;53(8):769-74. doi: 10.1007/s10038-008-0306-y. Epub 2008 Jun 20. 18566737
  49. Miyama S, Goto T, Inoue Y, Yamakawa K: Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. Pediatr Neurol. 2008 Aug;39(2):120-2. doi: 10.1016/j.pediatrneurol.2008.04.003. 18639757
  50. Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B: Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol. 2009 Aug;68(2):214-20. doi: 10.1111/j.1365-2125.2009.03437.x. 19694741
  51. Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 2009 Nov;31(10):758-62. doi: 10.1016/j.braindev.2009.08.009. Epub 2009 Sep 23. 19783390
  52. Orrico A, Galli L, Grosso S, Buoni S, Pianigiani R, Balestri P, Sorrentino V: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin Genet. 2009 Jun;75(6):579-81. 19522081
  53. Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM: A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. J Child Neurol. 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537. 19339291
  54. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. 18930999
  55. Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG: Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. 19332696
  56. Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL: Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure. 2009 Sep;18(7):492-7. doi: 10.1016/j.seizure.2009.04.009. Epub 2009 May 21. 19464195
  57. Ebrahimi A, Houshmand M, Tonekaboni SH, Fallah Mahboob Passand MS, Zainali S, Moghadasi M: Two novel mutations in SCN1A gene in Iranian patients with epilepsy. Arch Med Res. 2010 Apr;41(3):207-14. doi: 10.1016/j.arcmed.2010.04.007. 20682179
  58. Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S: Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. Epilepsia. 2010 Sep;51(9):1669-78. doi: 10.1111/j.1528-1167.2010.02645.x. Epub 2010 Jun 7. 20550552
  59. Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H: Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. Epilepsy Res. 2010 Jun;90(1-2):132-9. doi: 10.1016/j.eplepsyres.2010.04.003. Epub 2010 May 10. 20452746
  60. Nishri D, Blumkin L, Lev D, Leshinsky-Silver E, Abu-Rashid M, Birch R, Zuberi SM, Lerman-Sagie T: Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation. Eur J Paediatr Neurol. 2010 Sep;14(5):456-9. doi: 10.1016/j.ejpn.2010.03.002. Epub 2010 Apr 13. 20392657
  61. Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M: Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). J Child Neurol. 2010 Oct;25(10):1265-8. doi: 10.1177/0883073809357241. Epub 2010 Jan 28. 20110217
  62. Nicita F, Spalice A, Papetti L, Ursitti F, Parisi P, Gennaro E, Zara F, Iannetti P: Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). J Child Neurol. 2010 Nov;25(11):1369-76. doi: 10.1177/0883073810365737. Epub 2010 Aug 20. 20729507
  63. Sun H, Zhang Y, Liu X, Ma X, Yang Z, Qin J, Jiang Y, Qi Y, Wu X: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. J Hum Genet. 2010 Jul;55(7):421-7. doi: 10.1038/jhg.2010.39. Epub 2010 Apr 30. 20431604
  64. Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC: De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8. 19589774
  65. Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Heron D, Nabbout R, Leguern E: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. 20522430
  66. Li N, Zhang J, Guo JF, Yan XX, Xia K, Tang BS: Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. Neurosci Lett. 2010 Aug 23;480(3):211-4. doi: 10.1016/j.neulet.2010.06.040. Epub 2010 Jun 18. 20600615
  67. Herini ES, Gunadi, van Kempen MJ, Yusoff S, Sutaryo, Sunartini, Patria SY, Matsuo M, Lindhout D, Nishio H: Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. Pediatr Int. 2010 Apr;52(2):234-9. doi: 10.1111/j.1442-200X.2009.02916.x. Epub 2009 Jun 26. 19563458
  68. Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I: Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. Pediatr Neurol. 2010 Feb;42(2):137-40. doi: 10.1016/j.pediatrneurol.2009.09.007. 20117752
  69. Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB: Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Eur J Neurosci. 2011 Oct;34(8):1268-75. doi: 10.1111/j.1460-9568.2011.07826.x. Epub 2011 Aug 22. 21864321
  70. Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH: Genotype-phenotype associations in SCN1A-related epilepsies. Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19. 21248271
  71. Okumura A, Uematsu M, Imataka G, Tanaka M, Okanishi T, Kubota T, Sudo A, Tohyama J, Tsuji M, Ohmori I, Naiki M, Hiraiwa-Sofue A, Sato H, Saitoh S, Shimizu T: Acute encephalopathy in children with Dravet syndrome. Epilepsia. 2012 Jan;53(1):79-86. doi: 10.1111/j.1528-1167.2011.03311.x. Epub 2011 Nov 16. 22092154
  72. Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Burki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kroll J, Dorn T, Kramer G, Synofzik M, Becker F, Weber YG, Lerche H, Bohm D, Biskup S: Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. 22612257
  73. Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20. 23195492