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Scientific article
English

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Published inNature genetics, vol. 41, no. 2, p. 160-162
Publication date2009
Abstract

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

Keywords
  • Adolescent
  • Adult
  • Case-Control Studies
  • Child
  • Child, Preschool
  • *Chromosome Deletion
  • *Chromosomes, Human, Pair 15
  • Comparative Genomic Hybridization
  • Epilepsy, Generalized/*genetics
  • Female
  • *Genetic Predisposition to Disease
  • Humans
  • Male
  • Receptors, Nicotinic/genetics
  • Risk Factors
  • Young Adult
Citation (ISO format)
SHARP, Andrew James et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. In: Nature genetics, 2009, vol. 41, n° 2, p. 160–162. doi: 10.1038/ng.292
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ISSN of the journal1061-4036
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