GABA(A) receptor epilepsy mutations
- PMID: 15451392
- DOI: 10.1016/j.bcp.2004.07.029
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.
Republished in
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GABA(A) receptor mutations associated with generalized epilepsies.Adv Pharmacol. 2006;54:147-69. doi: 10.1016/s1054-3589(06)54007-4. Adv Pharmacol. 2006. PMID: 17175814 No abstract available.
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