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|Title:||Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH|
|Citation:||American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013; 162B(1):24-35|
|Publisher:||John Wiley & Sons, Inc|
|Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Michael G. Harbord, John Entwistle, Suzanna Thompson, Damian Clark, Claire Pridmore, Eric Haan, Christopher Barnett, Lesley McGregor, Jan Liebelt, Elizabeth M. Thompson, Kathryn Friend, Sharon M. Bain, Sui Yu, and John C. Mulley|
|Abstract:||The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed prospectively in a diagnostic setting using a standardized oligo-array CGH platform. Seventy-three (29.6%) had copy number variations (CNVs) and of these 73 cases, 27 (37.0%) had CNVs that were likely causative. These 27 cases comprised 10.9% of the 247 cases reviewed. The range of pathogenic CNVs associated with seizures was consistent with the existence of many genetic determinants for epilepsy.|
|Keywords:||array CGH; epilepsy; CNV; intellectual disability; autism|
|Rights:||Copyright © 2012 Wiley Periodicals, Inc.|
|Appears in Collections:||Paediatrics publications|
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