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Title

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Authors
Helbig, Ingo
Mefford, Heather C.
Fichera, Marco
Franke, Andre
Muhle, Hiltrud
de Kovel, C.
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Published in Nature Genetics. 2009, vol. 41, no. 2, p. 160-162
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 AdolescentAdultCase-Control StudiesChildChild, Preschool*Chromosome Deletion*Chromosomes, Human, Pair 15Comparative Genomic HybridizationEpilepsy, Generalized/*geneticsFemale*Genetic Predisposition to DiseaseHumansMaleReceptors, Nicotinic/geneticsRisk FactorsYoung Adult
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PMID: 19136953
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Research group Génétique psychiatrique (4)
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HELBIG, Ingo et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. In: Nature Genetics, 2009, vol. 41, n° 2, p. 160-162. https://archive-ouverte.unige.ch/unige:19858

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Deposited on : 2012-04-23

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