Na+ channel mutations and epilepsy

Abstract

Voltage-gated Na+ channels are the molecular targets for mutations that cause several epilepsy syndromes. Mutations that impair the function of NaV1.1 channels cause reduced Na+ currents and failure of electrical excitability in γγ-aminobutyric acid (GABA)ergic interneurons, providing a potential mechanism for hyperexcitability in a spectrum of Na+ channel epilepsy syndromes. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at). © 2010 International League Against Epilepsy.