Spectrum of SCN8A-Related Epilepsy

Pediatr Neurol Briefs. 2015 Feb;29(2):16. doi: 10.15844/pedneurbriefs-29-2-7.

Abstract

Investigators from the EuroEPINOMICS European research consortium studied 17 patients with epileptic encephalopathy due to SCN8A mutations and reported the specific genetic and phenotypic features.

Keywords: Dravet Syndrome; Epileptic Encephalopathies; SCN8A; Voltage Gated Sodium Channels.