SCN1A mutation publications list
NumberFirst author/YearAll of AuthorsTitleCitationPubmedID
1Abou-Khalil B/2001Abou-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
2Alekov A/2000Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.J Physiol. 2000 Dec 15;529 Pt 3:533-9. 11118488
3Alekov AK/2001Alekov AK, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.Eur J Neurosci. 2001 Jun;13(11):2171-6. 11422459
4Allen AS/2103Epi4K Consortium; Epilepsy Phenome/Genome Project.De novo mutations in epileptic encephalopathies.Nature. 2013 Sep 12;501(7466):217-21. 23934111
5Annesi G/2003Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Cirò 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
6Arlier Z/2010Arlier 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. 20110217
7Azmanov DN/2010Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW.Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.Epileptic Disord. 2010 Jun;12(2):117-24. 20562086
8Barba C/2014Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R.Co-occurring malformations of cortical development and SCN1A gene mutations.Epilepsia. 2014 Jul;55(7):1009-19. 24902755
9Barela AJ/2006Barela 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
10Barros J/2014Barros J, Ferreira A, Brandão AF, Lemos C, Correia F, Damásio J, Tuna A, Sequeiros J, Coutinho P, Alonso I, Pereira-Monteiro J.Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley.Cephalalgia. 2014 Oct;34(12):1015-20. 24646837
11Baulac S/1999Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E.A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.Am J Hum Genet. 1999 Oct;65(4):1078-85. 10486327
12Bechi G/2012Bechi G, Scalmani P, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M.Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.Epilepsia. 2012 Jan;53(1):87-100. 22150645
13Bolszak M/2009Bolszak M.2009 Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J.Digenic mutations in severe myoclonic epilepsy of infancy.Epilepsy Res. 2009 Aug;85(2-3):300-4. 19359143
14Brunklaus A/2014Brunklaus A, Zuberi SM.Dravet syndrome--from epileptic encephalopathy to channelopathyEpilepsia. 2014 Jul;55(7):979-84. 24836964
15Buoni S/2006Buoni S, Orrico A, Galli L, Zannolli R, Burroni L, Hayek J, Fois A, Sorrentino V.SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.Neurology. 2006 Feb 28;66(4):606-7. 16505326
16Cantarín-Extremera V/2011Cantarín-Extremera V, García-Peñas JJ, Gutiérrez-Solana LG, García-Fernández M, Ruiz-Falcó ML, Duat-Rodríguez A, López-Marín L.[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].Rev Neurol. 2011 Apr 1;52(7):404-11. 21425109
17Carranza RD/2011Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE.De novo SCN1A mutations in migrating partial seizures of infancy.Neurology. 2011 Jul 26;77(4):380-3. 21753172
18Carvill GL/2013Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Nat Genet. 2013 Jul;45(7):825-30. 23708187
19Carvill GL/2014Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC.GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Neurology. 2014 Apr 8;82(14):1245-53. 24623842
20Castro MJ/2009Castro MJ, Stam AH, Lemos C, de Vries B, Vanmolkot KR, Barros J, Terwindt GM, Frants RR, Sequeiros J, Ferrari MD, Pereira-Monteiro JM, van den Maagdenberg AM.First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.Cephalalgia. 2009 Mar;29(3):308-13. 19220312
21Castro MJ/2008Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM.Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.Clin Genet. 2008 Jan;73(1):37-43. 18028456
22Catarino CB/2011Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM.Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Brain. 2011 Oct;134(Pt 10):2982-3010. 21719429
23Catterall WA/2012Catterall WA.Voltage-gated sodium channels at 60: structure, function and pathophysiology.J Physiol. 2012 Jun 1;590(Pt 11):2577-89. 22473783
24Cestèle S/2013Cestèle S, Labate A, Rusconi R, Tarantino P, Mumoli L, Franceschetti S, Annesi G, Mantegazza M, Gambardella A.Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.Epilepsia. 2013 May;54(5):927-35. 23398611
25Ceulemans BP/2004Ceulemans 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
26Chen YJ/2014Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.Mol Neurobiol. 2014 Jul 3. [Epub ahead of print] 24990319
27Chou CI/2010I. Ching Chou, Wei-De Lin, Fuu-Jen TsaiNovel human pathological mutations. Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus.Hum Genet (2010) 127:481. 20135149
28Claes L/2001Claes 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. 11359211
29Claes L/2003Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren 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
30Claes LR/2009Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P.The SCN1A variant database: a novel research and diagnostic tool.Hum Mutat. 2009 Oct;30(10):E904-20. 19585586
31Colosimo E/2007Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A.Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.Epilepsia. 2007 Sep;48(9):1691-6. 17565594
32Combi R/2009Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalprà L.Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.Brain Res Bull. 2009 Apr 29;79(2):89-96. 19200853
33Cossette P/2003Cossette P, Loukas A, Lafrenière 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
34Craig AK/2012Craig AK, de Menezes MS, Saneto RP.Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.Seizure. 2012 Jan;21(1):17-20. 21906962
35Cui XK/2011Cui X, Zeng F, Liu Y, Zhang J, Archacki S, Zhan T, Du R, Tang Z, Liu J, Wang QK, Liu M.A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.Neurosci Lett. 2011 Sep 26;503(1):27-30. 21843600
36Davidsson J/2008Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases.Epilepsy Res. 2008 Sep;81(1):69-79. 18539002
37De Jonghe P/2011De Jonghe P.Molecular genetics of Dravet syndrome.Dev Med Child Neurol. 2011 Apr;53 Suppl 2:7-10. 21504425
38Depienne C/2006Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E.Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.Hum Mutat. 2006 Apr;27(4):389. 16541393
39Depienne C/2009Depienne 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. 18930999
40Depienne C/2010Depienne 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, Héron 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. 20522430
41Dhamija R/2014Dhamija R, Erickson MK, St Louis EK, Wirrell E, Kotagal S.Sleep abnormalities in children with Dravet syndrome.Pediatr Neurol. 2014 May;50(5):474-8. 24656210
42Dichgans M/2005Dichgans 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
43Dimova PS/2010Dimova 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. 20117752
44Dlugos DJ/2007Dlugos DJ, Ferraro TN, Buono RJ.Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).Pediatr Neurol. 2007 Oct;37(4):303-5. 17903680
45Ebach K/2005Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller 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
46Ebrahimi A/2010Ebrahimi 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. 20682179
47Escayg A/2000Escayg 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+2Nat Genet. 2000 Apr;24(4):343-5. 10742094
48Escayg A/2001Escayg 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. 11254445
49Freilich ER/2011Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL.Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.Arch Neurol. 2011 May;68(5):665-71. 21555645
50Frosk P/2013Frosk P, Mhanni AA, Rafay MF.SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.J Child Neurol. 2013 Mar;28(3):389-91. 22550089
51Fujiwara T/2003Fujiwara 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
52Fujiwara T/2006Fujiwara T.Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.Epilepsy Res. 2006 Aug;70 Suppl 1:S223-30. 16806826
53Fukuma G/2004Fukuma 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
54Gaily E/2013Gaily E, Anttonen AK, Valanne L, Liukkonen E, Träskelin AL, Polvi A, Lommi M, Muona M, Eriksson K, Lehesjoki AE.Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.Epilepsia. 2013 Sep;54(9):1577-85. 23808377
55Gambardella A/2009Gambardella A, Marini C.Clinical spectrum of SCN1A mutations.Epilepsia. 2009 May;50 Suppl 5:20-3. 19469841
56Gargus JJ/2007Gargus 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
57Gennaro E/2006Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F.Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. 16430863
58Goeggel Simonetti B/2012Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR."Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.Epilepsia. 2012 Dec;53(12):2128-34. 23016767
59Goldberg-Stern H/2014Goldberg-Stern H, Aharoni S, Afawi Z, Bennett O, Appenzeller S, Pendziwiat M, Kuhlenbäumer G, Basel-Vanagaite L, Shuper A, Korczyn AD, Helbig I.Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.J Child Neurol. 2014 Feb;29(2):221-6. 24257433
60Grant AC/2005Grant AC, Vazquez B.A case of extended spectrum GEFS+.Epilepsia. 2005;46 Suppl 10:39-40. 16359470
61Grosso S/2007Grosso 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
62Guerrini R/2010Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N.Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.Epilepsia. 2010 Dec;51(12):2474-7. 21204810
63Gökben S/2009Gökben S, Berdeli A, Serdaroğlu G.An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.Neuropediatrics. 2009 Apr;40(2):82-4. 19809937
64Harkin LA/2007Harkin 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; Infantile Epileptic Encephalopathy Referral CThe spectrum of SCN1A-related infantile epileptic encephalopathies.Brain. 2007 Mar;130(Pt 3):843-52. 17347258
65Hattori J/2008Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I.A screening test for the prediction of Dravet syndrome before one year of age.Epilepsia. 2008 Apr;49(4):626-33. 18076640
66Herini ES/2010Herini 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. 19563458
67Hindocha N/2008Hindocha 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. 18251839
68Huang AY/2014Huang AY, Xu X, Ye AY, Wu Q, Yan L, Zhao B, Yang X, He Y, Wang S, Zhang Z, Gu B, Zhao HQ, Wang M, Gao H, Gao G, Zhang Z, Yang X, Wu X, Zhang Y, Wei L.Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.Cell Res. 2014 Nov;24(11):1311-27. 25312340
69Iannetti P/2009Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F.Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy.Epilepsy Res. 2009 Jul;85(1):89-95. 19303743
70Iannetti P/2009Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F.Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy.Epilepsy Res. 2009 Jul;85(1):89-95. 19303743
71Jiao J/2013Jiao J, Yang Y, Shi Y, Chen J, Gao R, Fan Y, Yao H, Liao W, Sun XF, Gao S.Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.Hum Mol Genet. 2013 Nov 1;22(21):4241-52. 23773995
72Jingami N/2014Jingami N, Matsumoto R, Ito H, Ishii A, Ihara Y, Hirose S, Ikeda A, Takahashi R.A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.Epileptic Disord. 2014 Jun;16(2):227-31. 24842605
73Kahlig KM/2008Kahlig KM, Saridey SK, Kaja A, Daniels MA, George AL Jr, Wilson MH.Multiplexed transposon-mediated stable gene transfer in human cells.Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1343-8. 20080581
74Kanai K/2004Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.Neurology. 2004 Jul 27;63(2):329-34. 15277629
75Kearney JA/2006Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN.Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.Hum Mol Genet. 2006 Mar 15;15(6):1043-8. 16464983
76Kim DW/2013Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK.Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.Epilepsy Res. 2013 Oct;106(3):440-5. 23916143
77Kim YO/2014Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Dev Med Child Neurol. 2014 Jan;56(1):85-90. 24328833
78Kimura K/2005Kimura 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. 16122630
79Klassen T/2011Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J.Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.Cell. 2011 Jun 24;145(7):1036-48. 21703448
80Klassen TL/2014Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM.High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.Epilepsia. 2014 Feb;55(2):e6-12. 24372310
81Kobayashi K/2010Kobayashi K, Ouchida M, Okumura A, Maegaki Y, Nishiyama I, Matsui H, Ohtsuka Y, Ohmori I.Genetic seizure susceptibility underlying acute encephalopathies in childhood.Epilepsy Res. 2010 Oct;91(2-3):143-52. 20675100
82Kodera H/2013Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H.Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.Epilepsia. 2013 Jul;54(7):1262-9. 23662938
83Koshimizu E/2013Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.PLoS One. 2013 Sep 16;8(9):e74167. 24066114
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