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Scientific article
Open access
English

BRD2 and TAP-1 genes and juvenile myoclonic epilepsy

Published inNeurological sciences, vol. 31, no. 1, p. 53-56
Collection
  • Open Access - Licence nationale Springer
Publication date2010
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.

Keywords
  • ATP-Binding Cassette Transporters/*genetics
  • Adult
  • Female
  • France
  • Gene Frequency
  • Genetic Association Studies
  • *Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Myoclonic Epilepsy, Juvenile/*genetics
  • *Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Protein-Serine-Threonine Kinases/*genetics
  • Sequence Analysis, DNA
Citation (ISO format)
LAYOUNI, Samia et al. BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. In: Neurological sciences, 2010, vol. 31, n° 1, p. 53–56. doi: 10.1007/s10072-009-0190-z
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Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal1590-1874
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197downloads

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