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BRD2 and TAP-1 genes and juvenile myoclonic epilepsy

Layouni, Samia ; Buresi, Catherine ; Thomas, Pierre ; Malafosse, Alain ; Dogui, Mohamed

In: Neurological Sciences, 2010, vol. 31, no. 1, p. 53-56

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    Titre
    • BRD2 and TAP-1 genes and juvenile myoclonic epilepsy
    Auteur
    • Layouni, Samia. Laboratoire de Physiologie, Faculté de Médecine de Monastir, Monastir, Tunisia
    • Buresi, Catherine. Service de Médecine Génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland
    • Thomas, Pierre. Service de Neurologie, CHU, Nice, France
    • Malafosse, Alain. Service de Médecine Génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland
    • Dogui, Mohamed. Laboratoire de Physiologie, Faculté de Médecine de Monastir, Monastir, Tunisia
    Type de document
    • Postprint
    Identifiant OAI-PMH
    • oai:doc.rero.ch:322056
    Summary
    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