Journal article

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

Saul A Mullen, Gemma L Carvill, Susannah Bellows, Marta A Bayly, Samuel F Berkovic, Leanne M Dibbens, Ingrid E Scheffer, Heather C Mefford

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2013

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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Grants

Awarded by NIH (National Institute of Neurological Disorders and Stroke)


Awarded by Career Award for Medical Scientists from the Burroughs Wellcome Fund


Awarded by National Health and Medical Research Council of Australia


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.