GABA(A) receptor epilepsy mutations.

Abstract

Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA(A) receptor alpha1, gamma2, and delta subunits that have been associated with different IGE syndromes. These mutations affect GABA(A) receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures.

Extracted Key Phrases

9 Figures and Tables

Statistics

02040'06'07'08'09'10'11'12'13'14'15'16'17
Citations per Year

132 Citations

Semantic Scholar estimates that this publication has 132 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Macdonald2004GABAARE, title={GABA(A) receptor epilepsy mutations.}, author={Robert L Macdonald and Martin J Gallagher and Hua-Jun Feng and Jingqiong Kang}, journal={Biochemical pharmacology}, year={2004}, volume={68 8}, pages={1497-506} }