Identification of mutations
Functional study
Review and anlysis
SCN1A publications on reviews and anlysis list
Total items found: 10
NumberFirst author/YearAll of AuthorsTitleCitationPubmedID
1Brunklaus A/2014Brunklaus A, Zuberi SM.Dravet syndrome--from epileptic encephalopathy to channelopathyEpilepsia. 2014 Jul;55(7):979-84. 24836964
2Catterall WA/2012Catterall WA.Voltage-gated sodium channels at 60: structure, function and pathophysiology.J Physiol. 2012 Jun 1;590(Pt 11):2577-89. 22473783
3Claes 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
4De Jonghe P/2011De Jonghe P.Molecular genetics of Dravet syndrome.Dev Med Child Neurol. 2011 Apr;53 Suppl 2:7-10. 21504425
5Fujiwara 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
6Gambardella A/2009Gambardella A, Marini C.Clinical spectrum of SCN1A mutations.Epilepsia. 2009 May;50 Suppl 5:20-3. 19469841
7Lossin C/2009Lossin C.A catalog of SCN1A variants.Brain Dev. 2009 Feb;31(2):114-30. 18804930
8Kanai 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
9Mulley JC/2005"Mulley JC, Scheffer IE, Petrou S, Dibbens LM,SCN1A mutations and epilepsy.Hum Mutat. 2005 Jun;25(6):535-42. 15880351
10Parihar R/2013Parihar R, Ganesh S."The SCN1A gene variants and epilepticJ Hum Genet. 2013 Sep;58(9):573-80. 23884151