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Letter
Nature Genetics 31, 184–189 (1 June 2002) | doi:10.1038/ng885
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
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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 (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy.
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