Citations for
1SCN1A, SMEI2
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC.
Am J Hum Genet 103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023. 2018
2RER1, SCN1A, SCN8A
The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.
Valkova C, Liebmann L, Krämer A, Hübner CA, Kaether C.
Sci Rep 7:41248. doi: 10.1038/srep41248. 2017
3SCN1A
Cognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and Oscillations.
Bender AC, Luikart BW, Lenck-Santini PP.
PLoS One 11(3):e0151538. doi: 10.1371/journal.pone.0151538. 2016
4SCN1A
Scn1a dysfunction alters behavior but not the effect of stress on seizure response.
Sawyer NT, Helvig AW, Makinson CD, Decker MJ, Neigh GN, Escayg A.
Genes Brain Behav 15(3):335-47. doi: 10.1111/gbb.12281. 2016
5SCN1A
Age-dependent alterations of voltage-gated Na(+) channel isoforms in rat sinoatrial node.
Huang X, Du Y, Yang P, Lin S, Xi Y, Yang Z, Ma A.
Mech Ageing Dev 152:80-90. doi: 10.1016/j.mad.2015.10.003. 2015
6SCN1A, SMEI2
Dissecting the phenotypes of Dravet syndrome by gene deletion.
Rubinstein M, Han S, Tai C, Westenbroek RE, Hunker A, Scheuer T, Catterall WA.
Brain 138(Pt 8):2219-33. doi: 10.1093/brain/awv142. 2015
7SCN1A, SCN3A
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.
Mol Neurobiol 51(3):1263-70. doi: 10.1007/s12035-014-8802-x. Epub 2014 Jul 3. 2015
8SCN1A, SCN1B, SCN2A, SCN2B
Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy
Baum L, Haerian BS, Ng HK, Wong VC, Ng PW, Lui CH, Sin NC, Zhang C, Tomlinson B, Wong GW, Tan HJ, Raymond AA, Mohamed Z, Kwan P.
Hum Genet. May;133(5):651-9. doi: 10.1007/s00439-013-1405-1. Epub 2013 Dec 13. 2014
9RACK1, SCN1A
Transcription of the human sodium channel SCN1A gene is repressed by a scaffolding protein RACK1.
Dong ZF, Tang LJ, Deng GF, Zeng T, Liu SJ, Wan RP, Liu T, Zhao QH, Yi YH, Liao WP, Long YS.
Mol Neurobiol 50(2):438-48. doi: 10.1007/s12035-014-8633-9. 2014
10SCN1A, SMEI2
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.
Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.
Dev Med Child Neurol 56(1):85-90. doi: 10.1111/dmcn.12322. 2014
11GEFSP2, SCN1A
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.
Cestèle S, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M.
Proc Natl Acad Sci U S A 110(43):17546-51. doi: 10.1073/pnas.1309827110. Epub 2013 Oct 7. 2013
12SCN1A
NaV1.1 channels in axon initial segments of bipolar cells augment input to magnocellular visual pathways in the primate retina.
Puthussery T, Venkataramani S, Gayet-Primo J, Smith RG, Taylor WR.
J Neurosci 33(41):16045-59. doi: 10.1523/JNEUROSCI.1249-13.2013. 2013
13SCN1A
Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+).
Papale LA, Makinson CD, Christopher Ehlen J, Tufik S, Decker MJ, Paul KN, Escayg A.
Epilepsia 54(4):625-34. doi: 10.1111/epi.12060. 2013
14DEl2Q24, SCN1A, SCN2A, SCN3A
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
Epilepsia pilepsia. 2012 Sep 27. doi: 10.1111/j.1528-1167.2012.03676.x. [Epub ahead of print] 2012
15SCN1A
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
Han S, Tai C, Westenbroek RE, Yu FH, Cheah CS, Potter GB, Rubenstein JL, Scheuer T, de la Iglesia HO, Catterall WA.
Nature 489(7416):385-90. doi: 10.1038/nature11356. 2012
16SCN1A
Na(V)1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms.
Han S, Yu FH, Schwartz MD, Linton JD, Bosma MM, Hurley JB, Catterall WA, de la Iglesia HO.
Proc Natl Acad Sci U S A 109(6):E368-77. doi: 10.1073/pnas.1115729109. 2012
17SCN1A, SMEI2
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
Thompson CH, Porter JC, Kahlig KM, Daniels MA, George AL Jr.
J Biol Chem 287(50):42001-8. doi: 10.1074/jbc.M112.421883. Epub 2012 Oct 19. 2012
18FOXP1, GRIN2B, LAMC3, SCN1A
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.
Nat Genet 43(6):585-9. Epub 2011 May 15. 2011
19SCN1A, SMEI2
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F.
Biochem Biophys Res Commun 408(4):654-7. Epub 2011 Apr 21. 2011
20DEL2Q24, SCN1A
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
Okumura A, Yamamoto T, Shimojima K, Honda Y, Abe S, Ikeno M, Shimizu T.
Epilepsia 52(7):e66-9. doi: 10.1111/j.1528-1167.2011.03139.x. Epub 2011 Jun 21. 2011
21DEl2Q24, SCN1A, SCN2A, SCN3A
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
Am J Med Genet A 155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. No abstract available. 2011
22EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
23SCN1A, SMEI2
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC.
J Med Genet 47(2):137-41. Epub 2009 Jul 8.PMID: 19589774 2010
24DEL2Q24, DUP2Q24, SCN1A
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.
Epilepsia pilepsia. 2010 Apr 2. [Epub ahead of print]PMID: 20384724 2010
25SCN1A, SCN2A, SCN3A, SCN5A
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
Gazina EV, Richards KL, Mokhtar MB, Thomas EA, Reid CA, Petrou S.
Neuroscience 166(1):195-200. Epub 2009 Dec 17.PMID: 20006674 2010
26SCN1A, SMEI2
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
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, Héron D, Nabbout R, Leguern E.
J Med Genet 47(6):404-10.PMID: 20522430 2010
27SCN1A, SMEI2
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H, Zhang Y, Liu X, Ma X, Yang Z, Qin J, Jiang Y, Qi Y, Wu X.
J Hum Genet 55(7):421-7. Epub 2010 Apr 30. 2010
28SCN1A, SMEI2
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
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.
J Med Genet 46(3):183-91. Epub 2008 Oct 17. 2009
29DEl2Q24, EIEE74, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI2
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.
Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
30SCN1A, DEL2Q24, SMEI2
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.
Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.
Epilepsy Res pilepsy Res. 2008 Jun 6. [Epub ahead of print] 2008
31SCN1A, DEL2Q24, SMEI2
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
Epilepsia pilepsia. 2008 May 8. [Epub ahead of print] 2008
32SCN1A, DEL2Q24, SMEI2
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
M¿ller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, TŸmer Z.
Epilepsia 49(6):1091-4. Epub 2008 Feb 20. 2008
33GEFSP2, SCN1A
Divergent sodium channel defects in familial hemiplegic migraine.
Kahlig KM, Rhodes TH, Pusch M, Freilinger T, Pereira-Monteiro JM, Ferrari MD, van den Maagdenberg AM, Dichgans M, George AL Jr.
Proc Natl Acad Sci U S A 105(28):9799-804. Epub 2008 Jul 9. 2008
34SCN1A, SMEI2
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
McArdle EJ, Kunic JD, George AL Jr.
Am J Med Genet A 146A(18):2421-3. No abstract available. 2008
35SCN1A
Rasmussen encephalitis associated with SCN 1 A mutation.
Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y.
Epilepsia 49(3):521-6. Epub 2007 Nov 21.PMID: 18031552 2008
36GEFSP2, SCN1A
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M.
J Neurosci 28(29):7273-83. 2008
37DEL2Q24, SCN1A
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.
Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.
Epilepsy Res 81(1):69-79. Epub 2008 Jun 9. 2008
38SCN1A, NOVA2
Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A.
Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB.
Am J Hum Genet 80(5):876-83. Epub 2007 Apr 3. 2007
39SCN8A, SCN1A
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
Hum Mol Genet 16(23):2892-9. Epub 2007 Sep 19. 2007
40SCN1A, SCN2A, SCN3A
Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.
Martin MS, Tang B, Ta N, Escayg A.
Genomics 90(2):225-35. Epub 2007 Jun 4. 2007
41GEFSP2, SCN1A
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.
Colosimo 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.
Epilepsia 48(9):1691-6. Epub 2007 Jun 12. 2007
42SCN1A
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
Rusconi R, Scalmani P, Cassulini RR, Giunti G, Gambardella A, Franceschetti S, Annesi G, Wanke E, Mantegazza M.
J Neurosci 27(41):11037-46. 2007
43GEFSP2, SCN1A
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
Gargus JJ, Tournay A.
Pediatr Neurol 37(6):407-10.PMID: 18021921 2007
44SCN1A, SMEI2, DEL2Q24
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR.
Hum Mutat 27(9):914-20. 2006
45SCN1A
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.
Kahlig KM, Misra SN, George AL Jr.
J Neurosci 26(43):10958-66. 2006
46SCN1A, SMEI2
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE.
Neurology 67(6):1094-5. 2006
47GABRG2, GEFSP2, SCN1A, SMEI2
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.
Neurology 67(12):2224-6. 2006
48SCN1A
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.
Vanoye CG, Lossin C, Rhodes TH, George AL Jr.
J Gen Physiol 127(1):1-14. 2006
49SCN1A, SMEI2, GEFSP2
SCN1A mutations and epilepsy.
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.
Hum Mutat 25(6):535-42. 2005
50GEFSP2, SCN1A
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
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.
Proc Natl Acad Sci U S A 102(50):18177-82. Epub 2005 Dec 2. 2005
51SCN1A, GEFSP2, SMEI2
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Muller U, Neubauer BA.
Neuropediatrics 36(3):210-3. 2005
52SCN1A,SMEI2
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.
Brain Dev 27(6):424-30. Epub 2005 Jan 12. 2005
53SCN1A, SMEI2
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).
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.
Epilepsia 45(2):140-8. 2004
54SCN1A, SMEI2
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
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.
Neurology 60(12):1961-7. 2003
55SMEI2, SCN1A
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
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.
Neurology 61(6):765-9. 2003
56SCN1A, SCN2A, SCN3A
Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH.
Mol Psychiatry 8(2):186-94. 2003
57SCN1A, SMEI2
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K.
Neurology 58(7):1122-4. 2002
58SCN1A, SMEI2
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.
Biochem Biophys Res Commun 295(1):17-23. 2002
59SCN1A, SCN1B
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
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.
Am J Hum Genet 68(4):859-65. 2001
60SCN1A
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH.
Am J Hum Genet 68(4):866-73. 2001
61GEFSP2, SCN1A
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.
Am J Hum Genet 68(6):1327-32. 2001
62GEFSP2, SCN1A
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
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.
Nat Genet 24(4):343-5. No abstract available. 2000
63SCN1A
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.
Malo MS, et al.
Cytogenet Cell Genet 67 : 178-186. 1994
64SCN1A
The gene for the sodium channel Iˆ subunit is located on chromosome 21.
Blanchard BJ, et al.
(HGM11) Cytogenet Cell Genet 58 : 2034. 1991