Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
P Cossette, L Liu, K Brisebois, H Dong, A Lortie… - Nature …, 2002 - nature.com
P Cossette, L Liu, K Brisebois, H Dong, A Lortie, M Vanasse, JM Saint-Hilaire, L Carmant…
Nature genetics, 2002•nature.comAlthough 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 GABRA1, encoding the α1 subunit of the
γ-aminobutyric acid receptor subtype A (GABA A), is found in affected individuals of a large
French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype
receptors, GABA A receptors that contain the mutant subunit show a lesser amplitude of …
that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be
identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the
γ-aminobutyric acid receptor subtype A (GABA A), is found in affected individuals of a large
French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype
receptors, GABA A receptors that contain the mutant subunit show a lesser amplitude of …
Abstract
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 GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABA A), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABA A receptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents in vitro, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans.
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