Specific genetic anomalies or non-genetic factors could lead to epilepsy, but in various cases the underlying
cause is unknown. Novel technologies, such as array comparative genomic hybridization, may reveal the copy number
variants (CNVs), established as significant risk factor for epilepsy. This study carried out a high-density whole genome
array- comparative genomic hybridization analysis with blood DNA samples from a cohort of twenty epilepsy patients to
search for CNVs associated with epilepsy. Microdeletion of 14q31.1 was observed in four patients including two from the
same family with loss of the NRXN3 gene; microdeletion of 15q12 in one patient with loss of the GABRG3 gene, and
microduplication of 20q13.33 in three patients with loss of the gene group CHRNA4, KCNQ2, EEF1A2 and PPDPF were
also found. These CNV findings were confirmed by real-time quantitative polymerase chain reaction. We have described,
for the first time, numerous potential CNVs/genes implicated in epilepsy in the Saudi population. The study presents a
better description of the genetic variations in epilepsy, and would eventually enable us to provide a foundation for
understanding the critical genome regions which might be involved in the development of epilepsy.
Keywords: Array-comparative genomic hybridization, copy number variations, epilepsy, microdeletions, microduplications.
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