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Type: Journal article
Title: Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
Author: Nicholl, J.
Waters, W.
Suwalski, S.
Brown, S.
Hull, Y.
Harbord, M.
Entwistle, J.
Thompson, S.
Clark, D.
Pridmore, C.
Haan, E.
Barnett, C.
McGregor, L.
Liebelt, J.
Thompson, E.
Friend, K.
Bain, S.
Yu, S.
Mulley, J.
Citation: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013; 162B(1):24-35
Publisher: John Wiley & Sons, Inc
Issue Date: 2013
ISSN: 1552-485X
Statement of
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
intellectual disability
Rights: Copyright © 2012 Wiley Periodicals, Inc.
DOI: 10.1002/ajmg.b.32114
Appears in Collections:Aurora harvest 4
Paediatrics publications

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