Journal article

Spectrum of GABA(A) receptor variants in epilepsy

Snezana Maljevic, Rikke S Moller, Christopher A Reid, Eduardo Perez-Palma, Dennis Lal, Patrick May, Holger Lerche

CURRENT OPINION IN NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019

Abstract

PURPOSE OF REVIEW: Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of epilepsies. The aim of this review is to give an overview of the current clinical phenotypes, genetic findings and pathophysiological mechanisms related to GABAA receptor variants. RECENT FINDINGS: Early work showed that inherited variants in GABRG2 and GABRA1 cause relatively mild forms of monogenic epilepsies in large families. More recent studies have revealed that de novo variants in several GABAA receptor genes cause severe developmental and epileptic encephalopathies, inherited variants cause remarkably variab..

View full abstract

Grants

Awarded by Luxembourg Fond Nationale de la Recherche (FNR) via the Research Unit FOR2715


Awarded by National Health and Medical Research Council (NHMRC) Program Grant


Funding Acknowledgements

The current work has been supported by the German Research Foundation (DFG) and the Luxembourg Fond Nationale de la Recherche (FNR) via the Research Unit FOR2715 (grants Le1030/16-1, Kr5093/2-1), and a National Health and Medical Research Council (NHMRC) Program Grant (10915693) to C.A.R.