Variome analysis of genomic pathology in children with epilepsy

Variome analysis is an assessment of variome (all genomic variations detected in an individual or in a specific disease) by genome scan. Here, we describe an analysis of genomic variations manifesting as copy number variants (CNV) in 139 children suffering from intellectual disability and epilepsy. Chromosomal abnormalities were detected in 24 (17.3 %) children; chromosomal instability was detected in 18 (12.9 %) children; genome instability (chromohelkosis) was detected in 7 (5 %) children; partial uniparental disomy in imprinted chromosomal loci was detected in 15 (10.8 %) children. Five children (3.6 %) were born to consanguineous parents. CNV, which might be associated with functional outcomes, were detected in all the children. Analyzing the genes affected by the genomic variations, we unraveled candidate processes of epilepsy, among which were pathways implicated in cell cycle regulation and genome stability maintenance.

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