Article
Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
Epilepsy research - 1 Jun 2005
Lenzen Kirsten P, Heils Armin, Lorenz Susanne, Hempelmann Anne, Sander Thomas
Abstract excerpt
PURPOSE: Mutation analysis of the gene encoding the GABA delta subunit (GABRD) identified a common missense variation (c.659G>A; Arg220His) of which the His220 allele displayed decreased GABA(A) alpha(1)beta(2)delta receptor current amplitudes. The present association study tested whether the functional GABRD His220 allele confers susceptibility to common syndromes of idiopathic generalized epilepsy (IGE)....
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