Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

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 devel...

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Published inAmerican journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 162B; no. 1; pp. 24 - 35
Main 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.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2013
Wiley Subscription Services, Inc
Subjects
Adolescent
Adult
Aged
array CGH
Autism
Child
Child Development Disorders, Pervasive - complications
Child Development Disorders, Pervasive - diagnosis
Child Development Disorders, Pervasive - genetics
Child, Preschool
Chromosome Deletion
Chromosome Duplication - genetics
CNV
Cognition Disorders - complications
Cognition Disorders - diagnosis
Cognition Disorders - genetics
Comparative Genomic Hybridization
DNA Copy Number Variations - genetics
epilepsy
Epilepsy - complications
Epilepsy - diagnosis
Epilepsy - genetics
Female
Genetic Counseling
Genetic Predisposition to Disease
Genetics
Humans
Incidental Findings
Infant
intellectual disability
Male
Middle Aged
Young Adult
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Summary: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.
Bibliography:istex:C4FA7075AF8F39FC70ACDCEF2A2AF94211095CDB
Sui Yu and John C. Mulley contributed equally to this study.
ArticleID:AJMG32114
Conflicts of interest: none to declare.
How to Cite this Article: Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. 2012. Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH. Am J Med Genet Part B 162B:24-35.
ark:/67375/WNG-745D2QQC-L
How to Cite this Article: Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. 2012. Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH. Am J Med Genet Part B 162B:24–35.
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ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.32114