TY - JOUR
T1 - Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
AU - Nicholl, Jillian
AU - Waters, Wendy
AU - Suwalski, Shann
AU - Brown, Sue
AU - Hull, Yvonne
AU - Harbord, Michael
AU - Entwistle, John
AU - Thompson, Suzanna
AU - Clark, Damian
AU - Pridmore, Claire
AU - Haan, Eric
AU - Barnett, Christopher
AU - McGregor, Lesley
AU - Liebelt, Jan
AU - Thompson, Elizabeth
AU - Friend, Kathyrn
AU - Bain, Sharon
AU - Yu, Sui
AU - Mulley, JC
PY - 2013/1
Y1 - 2013/1
N2 - 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.
AB - 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.
KW - Array CGH
KW - Autism
KW - CNV
KW - Epilepsy
KW - Intellectual disability
UR - http://www.scopus.com/inward/record.url?scp=84871321481&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.32114
DO - 10.1002/ajmg.b.32114
M3 - Article
VL - 162
SP - 24
EP - 35
JO - AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
JF - AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
SN - 1552-4841
IS - 1
ER -