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Biochem Pharmacol. 2004 Oct 15;68(8):1497-506.

GABA(A) receptor epilepsy mutations.

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Department of Neurology, Vanderbilt University, 6140 Medical Research Building III, 465 21st Ave Nashville, TN 37232-8552, USA.


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.

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