摘要：

Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABAreceptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation ofpredisposes towards a common idiopathic generalized epilepsy syndrome in humans.

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