De novo mutations of voltage-gated sodium channel α _II gene <i>SCN2A</i> in intractable epilepsies

Abstract

The identified de novo mutations SCN2A-E1211K, -I1473M, and -R102X indicate that SCN2A is an etiologic candidate underlying a variety of intractable childhood epilepsies. The phenotypic variations among patients might be due to the different electrophysiologic properties of mutant channels.