Author(s): Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T
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Abstract 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). METHODS: Five hundred and sixty two unrelated German IGE patients and 664 healthy population controls were genotyped for the c.659G>A polymorphism in exon 6 of the GABRD gene. RESULTS: His220 allele frequencies did not differ significantly between IGE patients (2.3\%) and the controls (2.8\%; P=0.46). Likewise, no evidence for an allelic association was found with juvenile myoclonic epilepsy (n=218; 2.8\%; P=0.97) or idiopathic absence epilepsy (n=260; 2.3\%; P=0.56). CONCLUSION: Our results provide no evidence that the functional GABRD His220 allele mediates a substantial susceptibility effect to common IGE syndromes in the German population.
This article was published in Epilepsy Res
and referenced in International Journal of Neurorehabilitation