Characterizing gating defects of SCN2A countercharge mutations in epilepsy syndromes

Abstract

We are interested in the role of negatively charged residues in the S1 to S3 segments of voltage-gated sodium channels as countercharges to S4 arginine and lysine residues during gating. There are only a few studies that have investigated the functional impact of countercharge mutations associated with channelopathies of nerve or muscle. In the present work we sought to characterize the gating defects of three countercharge mutations in brain SCN2A channels that are associated with epilepsy syndromes.