title: Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
abstract: 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.
authors.affiliation: Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.
authors.forename: Jillian
authors.initials: J
authors.lastname: Nicholl
authors.forename: Wendy
authors.initials: W
authors.lastname: Waters
authors.forename: Shanna
authors.initials: S
authors.lastname: Suwalski
authors.forename: Sue
authors.initials: S
authors.lastname: Brown
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Hull
authors.forename: Michael G
authors.initials: MG
authors.lastname: Harbord
authors.forename: John
authors.initials: J
authors.lastname: Entwistle
authors.forename: Suzanna
authors.initials: S
authors.lastname: Thompson
authors.forename: Damian
authors.initials: D
authors.lastname: Clark
authors.forename: Claire
authors.initials: C
authors.lastname: Pridmore
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
authors.forename: Christopher
authors.initials: C
authors.lastname: Barnett
authors.forename: Lesley
authors.initials: L
authors.lastname: McGregor
authors.forename: Jan
authors.initials: J
authors.lastname: Liebelt
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Thompson
authors.forename: Kathryn
authors.initials: K
authors.lastname: Friend
authors.forename: Sharon M
authors.initials: SM
authors.lastname: Bain
authors.forename: Sui
authors.initials: S
authors.lastname: Yu
authors.forename: John C
authors.initials: JC
authors.lastname: Mulley
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D003072:Cognition Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D008297:Male; D008875:Middle Aged; D055815:Young Adult