| Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. | |
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MedLine Citation:
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PMID: 23184456 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-11-26 |
Journal Detail:
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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:
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Created Date: 2012-11-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235742 Medline TA: Am J Med Genet B Neuropsychiatr Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Wiley Periodicals, Inc. |
Affiliation:
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Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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