Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy

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Item Type:	Article
Title:	Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy
Creators Name:	Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A. and Sander, T.
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.
Keywords:	Idiopathic Generalized Epilepsy, GABRD, Association, Genetics
Source:	Epilepsy Research
ISSN:	0920-1211
Publisher:	Elsevier
Volume:	65
Number:	1-2
Page Range:	53-57
Date:	June 2005
Additional Information:	The original publication is available at www.sciencedirect.com
Official Publication:	https://doi.org/10.1016/j.eplepsyres.2005.04.005
PubMed:	View item in PubMed

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