期刊
NATURE GENETICS
卷 41, 期 2, 页码 160-162出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.292
关键词
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资金
- German Research Foundation [SA434/4-1]
- German Federal Ministry of Education and Research (National Genome Research Network [NGFN-2]
- European Community
- EPICURE [LSHM-CT-2006-037315, 219250]
- PopGen biobank
- University of Kiel
- Danish National Research Foundation
- NIH [HD043569]
- National Epilepsy Funds (NEF) [04-08]
- Netherlands Organization for Scientific Research (NOW) [917.66.315]
- German Research Foundation/German Federal Ministry of Education and Research (DFG/BMBF)
- Howard Hughes Medical Institute
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.
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