The authors have no conflicts of interest to declare.
Article first published online: 23 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 7, pages 760–771, October 2012
How to Cite
Bartnik, M., Szczepanik, E., Derwińska, K., Wiśniowiecka-Kowalnik, B., Gambin, T., Sykulski, M., Ziemkiewicz, K., Kędzior, M., Gos, M., Hoffman-Zacharska, D., Mazurczak, T., Jeziorek, A., Antczak-Marach, D., Rudzka-Dybała, M., Mazurkiewicz, H., Goszczańska-Ciuchta, A., Zalewska-Miszkurka, Z., Terczyńska, I., Sobierajewicz, M., Shaw, C. A., Gambin, A., Mierzewska, H., Mazurczak, T., Obersztyn, E., Bocian, E. and Stankiewicz, P. (2012), Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am. J. Med. Genet., 159B: 760–771. doi: 10.1002/ajmg.b.32081
How to Cite this Article: Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. 2012. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet Part B.
- Issue published online: 14 SEP 2012
- Article first published online: 23 JUL 2012
- Manuscript Accepted: 2 JUL 2012
- Manuscript Received: 3 FEB 2012
- Polish Ministry of Science and Higher Education. Grant Number: R13-0005-04/2008
- Foundation for Polish Science
- array CGH;
- copy-number variants;
- KCNJ3, WWOX;
Copy-number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray techniques enables detection of pathogenic CNVs in ∼10–20% of patients, there are only few studies of the role of CNVs in epilepsy and genetic etiology in the vast majority of cases remains unknown. We have applied whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) to a cohort of 102 patients with various types of epilepsy with or without additional neurodevelopmental abnormalities. Chromosomal microarray analysis revealed 24 non-polymorphic CNVs in 23 patients, among which 10 CNVs are known to be clinically relevant. Two rare deletions in 2q24.1q24.3, including KCNJ3 and 9q21.13 are novel pathogenic genetic loci and 12 CNVs are of unknown clinical significance. Our results further support the notion that rare CNVs can cause different types of epilepsy, emphasize the efficiency of detecting novel candidate genes by whole-genome array CGH, and suggest that the clinical application of array CGH should be extended to patients with unexplained epilepsies. © 2012 Wiley Periodicals, Inc.