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BRD2 and TAP-1 genes and juvenile myoclonic epilepsy

Layouni, Samia
Buresi, Catherine
Thomas, Pierre
Dogui, Mohamed
Published in Neurological Sciences. 2010, vol. 31, no. 1, p. 53-56
Collection Open Access - Licence nationale Springer
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/*geneticsAdultFemaleFranceGene FrequencyGenetic Association Studies*Genetic Predisposition to DiseaseGenotypeHaplotypesHumansMaleMyoclonic Epilepsy, Juvenile/*genetics*Polymorphism, GeneticPolymorphism, Single NucleotideProtein-Serine-Threonine Kinases/*geneticsSequence Analysis, DNA
PMID: 19953286
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Research group Génétique psychiatrique (4)
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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 https://archive-ouverte.unige.ch/unige:21077

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Deposited on : 2012-05-23

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