Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha1A calcium channel gene and common syndromes of idiopathic generalized epilepsy

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Item Type:	Article
Title:	Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha1A calcium channel gene and common syndromes of idiopathic generalized epilepsy
Creators Name:	Sander, T., Toliat, M.R., Heils, A., Becker, C. and Nuernberg, P.
Abstract:	The present replication study tested the validity of a previously reported allelic association between a single nucleotide polymorphism in exon 8 (SNP8) of the gene encoding the α1A-calcium channel subunit (CACNA1A) and common subtypes of idiopathic generalized epilepsy (IGE). Pyrosequencing was applied to assess the SNP8 genotypes in 354 unrelated German IGE probands, both parents of 118 IGE probands, and 186 healthy control subjects of German descent. Our population-based association analysis did not provide evidence for an allelic association of SNP8 with either IGE or two phenotypically more homogeneous IGE subtypes, consisting of either 139 probands with juvenile myoclonic epilepsy or 207 probands whose IGE started with typical absence seizures (P>0.72). In addition, the transmission disequilibrium test did not indicate a preferential transmission of SNP8 alleles in 97 informative parent-child transmissions (McNemar χ2=0.093, df=1, P=0.76). Accordingly, we failed to confirm previous evidence that genetic variation of the CACNA1A gene confers susceptibility to common IGE syndromes.
Keywords:	Association, CACNA1A, Calcium Channel, Genetics, Idiopathic Generalized Epilepsy
Source:	Epilepsy Research
ISSN:	0920-1211
Publisher:	Elsevier
Volume:	49
Number:	2
Page Range:	173-177
Date:	1 January 2002
PubMed:	View item in PubMed

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