Abstracts

Rationale: Duplications and deletions of genetic material have been suggested to play a role in the genesis of clinical epilepsy. While this association has been observed with some copy number variants in the past, we hypothesize that several other epileptic syndromes arising from copy number variants are yet to be described. Methods: Children with a known history of clinical epilepsy were recruited to participate in this study (N=154; 85 male, 71 female; average age 7.4 ± 5.0 years.) Genetic material extracted from leukocytes was analyzed by way of chromosomal microarray. Results: A total of 554 copy number variants (52% duplications, 48% deletions) were identified (3.6 ± 1.9 per patient), although only 38 of these (6.8%) were identified as having an association with seizures. Deletions were commonly detected on 1q44, 2q37.3, 3p21.31, 6p25.3, 8p11.23, and Xp22.33. Duplications were commonly detected on 1q44, 8p11.23, 12p11.21, 17q21.31, X128, and Xp22.33. Conclusions: Copy number variants are common in children with pediatric epilepsy despite the fact that relatively few specific clinical syndromes arising from copy number variants have been described. Future studies with radiological and other clinical correlations are warranted, as is comparison with genetic data from children without epilepsy.