Literature DB >> 19953286

BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.

Samia Layouni1, Catherine Buresi, Pierre Thomas, Alain Malafosse, Mohamed Dogui.   

Abstract

Juvenile myoclonic epilepsy (JME) is a genetically determined common subtype of idiopathic generalized epilepsy. Linkage of JME to the chromosomal region 6p21.3 has been reported. An association has been previously observed between JME and the positional candidate, 6p21.3 linked, BRD2. Another candidate in this region is the TAP-1 gene encoding the Transporter Associated with Antigen Processing. The aim of the present study is to determine whether these two genes modulate the vulnerability to JME. While no difference was observed in the allele and genotype frequencies of BRD2 between JME and controls, an association was found between a TAP-1 haplotype and JME, suggesting that this gene may be another 6p21.3 linked vulnerability factor to JME.

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Year:  2009        PMID: 19953286     DOI: 10.1007/s10072-009-0190-z

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  24 in total

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Authors:  P M van Endert; M T Lopez; S D Patel; J J Monaco; H O McDevitt
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