Document Detail


Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH.
MedLine Citation:
PMID:  23184456     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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. © 2012 Wiley Periodicals, Inc.
Authors:
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; John C Mulley
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-26
Journal Detail:
Title:  American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics     Volume:  -     ISSN:  1552-485X     ISO Abbreviation:  Am. J. Med. Genet. B Neuropsychiatr. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235742     Medline TA:  Am J Med Genet B Neuropsychiatr Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.
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