Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy

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Item Type:	Article
Title:	Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy
Creators Name:	Hempelmann, A., Heils, A. and Sander, T.
Abstract:	Juvenile myoclonic epilepsy (JME) is a genetically determined common subtype of idiopathic generalized epilepsy. Recently, linkage of JME to the chromosomal region 15q14, as well as an allelic and genotypic association between the synonymous coding single nucleotide polymorphism c.588C>T (dbSNP: rs3743123, S196S) of the positional candidate gene connexin-36 (CX36) and JME have been reported. The present replication study examined this tentative association in 247 German JME patients and 621 population controls. The frequency of the c.588T allele was significantly increased in the JME patients (35%) compared to controls (29.7%; P=0.016, one-tailed). Consistent to the original report, we also observed a significant increase of T/T homozygotes (13.4%) in the JME patients compared to controls (8.7%; P=0.019, one-tailed; OR(T/T+)=1.62; 95%-CI: 1.02-2.57). The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME.
Keywords:	Juvenile Myoclonic Epilepsy, Connexin-36, Association, Genetics
Source:	Epilepsy Research
ISSN:	0920-1211
Publisher:	Elsevier
Volume:	71
Number:	2-3
Page Range:	223-228
Date:	October 2006
Official Publication:	https://doi.org/10.1016/j.eplepsyres.2006.06.021
PubMed:	View item in PubMed

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