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Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
Author(s) -
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.
Publication year - 2013
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32114
Subject(s) - autism , epilepsy , copy number variation , intellectual disability , autistic spectrum , cognition , pediatrics , medicine , cognitive disabilities , pervasive developmental disorder , psychiatry , clinical significance , autism spectrum disorder , psychology , genetics , gene , biology , genome
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.