Conflicts of interest: none to declare.
Article first published online: 26 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 1, pages 24–35, January 2013
How to Cite
Nicholl, J., Waters, W., Suwalski, S., Brown, S., Hull, Y., Harbord, M. G., Entwistle, J., Thompson, S., Clark, D., Pridmore, C., Haan, E., Barnett, C., McGregor, L., Liebelt, J., Thompson, E. M., Friend, K., Bain, S. M., Yu, S. and Mulley, J. C. (2013), Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. Am. J. Med. Genet., 162: 24–35. doi: 10.1002/ajmg.b.32114
Sui Yu and John C. Mulley contributed equally to this study.
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.
- Issue published online: 18 DEC 2012
- Article first published online: 26 NOV 2012
- Manuscript Accepted: 9 OCT 2012
- Manuscript Received: 14 FEB 2012
- array CGH;
- intellectual disability;
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.