Genetic epilepsies and GABAA receptor mutations

Abstract

SummaryIdiopathic generalized epilepsy (IGE) syndromes are associated with ion channel gene mutations including GABAA receptor subunit gene (GABR) mutations. GABAA receptors are the primary mediators of central nervous system (CNS) inhibitory synaptic transmission, and GABR mutations have been shown to produce GABAergic disinhibition by altering GABAA receptor function and/or impairing receptor biogenesis. 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 http://www.ncbi.nlm.nih.gov/books).