Potassium voltage-gated channel subfamily Q member 2
genes
References
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ,Steinlein OK. A potassium channel mutation in neonatal human epilepsy. Science.1998 Jan 16;279(5349):403-6.
Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M. Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3potassium channels. J Neurosci. 2002 Jan 15;22(2):RC199.
Chung HJ, Jan YN, Jan LY. Polarized axonal surface expression of neuronal KCNQchannels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminaldomains. Proc Natl Acad Sci U S A. 2006 Jun 6;103(23):8870-5.
Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W,Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK.A reduced K+ current due to a novel mutation in KCNQ2 causes neonatalconvulsions. Ann Neurol. 1999 Sep;46(3):305-12.
Millichap JJ, Cooper EC. KCNQ2 Potassium Channel Epileptic EncephalopathySyndrome: Divorce of an Electro-Mechanical Couple? Epilepsy Curr. 2012Jul;12(4):150-2. doi: 10.5698/1535-7511-12.4.150.
Rogawski MA. KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis ofepilepsy: implications for therapy. Trends Neurosci. 2000 Sep;23(9):393-8.Review.
Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Whole exome sequencing identifies KCNQ2mutations in Ohtahara syndrome. Ann Neurol. 2012 Aug;72(2):298-300. doi:10.1002/ana.23620.
Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function ofcyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 1998 Dec17;396(6712):687-90.
Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE,Sanguinetti MC, Leppert MF; BFNC Physician Consortium. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of thefunctional and mutation spectrum. Brain. 2003 Dec;126(Pt 12):2726-37.
Soldovieri MV, Miceli F, Bellini G, Coppola G, Pascotto A, Taglialatela M.Correlating the clinical and genetic features of benign familial neonatalseizures (BFNS) with the functional consequences of underlying mutations.Channels (Austin). 2007 Jul-Aug;1(4):228-33.
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Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, DeprezL, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, HasaertsD, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF,Scheffer IE, de Jonghe P. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 Jan;71(1):15-25. doi:10.1002/ana.22644.
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