Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012)

• Record Type: Journal Article
• Authors: Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Sui; Mulley, John C.
• Is Part Of: American journal of medical genetics. Volume 162:Issue 1(2013)
• Page Start: 24
• Page End: 35
• Publication Date: 2012-11-26
• Subjects: Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32114
• Languages: English
• ISSNs: 1552-4841

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>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.</p> </abstract>