Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

SA Mullen; GL Carvill; S Bellows; MA Bayly; SF Berkovic; LM Dibbens; IE Scheffer; HC Mefford

Journal article

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

SA Mullen, GL Carvill, S Bellows, MA Bayly, SF Berkovic, LM Dibbens, IE Scheffer, HC Mefford

Neurology | Published : 2013

DOI: 10.1212/WNL.0b013e3182a95829

Abstract

Objective: We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study. Methods: CNVs contribute to the genetics of multiple neurodevelopmental disorders with complex inheritance, including GGE and ID. Three hundred fifty-nine probands with GGE and 60 probands with ID-GGE were screened for GGE-associated recurrent microdeletions at 15q13.3, 15q11.2, and 16p13.11 via quantitative PCR or loss of heterozygosity. Deletions were confirmed by comparative genomic hybridization (CGH). ID-GGE probands also had genome-wide CGH. Resul..

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University of Melbourne Researchers

Sam Berkovic Author

Ingrid Scheffer Author

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Grants

Awarded by National Institute of Neurological Disorders and Stroke

Funding Acknowledgements

Supported by the NIH (National Institute of Neurological Disorders and Stroke 1R01NS069605 to H. C. M.); Career Award for Medical Scientists from the Burroughs Wellcome Fund (1007607.01 to H. C. M.); the National Health and Medical Research Council of Australia (400121 to S. F. B. and I. E. S.); RACP GlaxoSmithKline fellowship (S. A. M.); and the Operational Infrastructure Support Program of the State Government of Victoria, Australia.