15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig1, Heather C Mefford, Andrew J Sharp
1Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Schwanenweg 20, 24105 Kiel, Germany.
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.
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