Copy number variations in epilepsy plus

Takeaway

  • Pathogenic autosomal copy number variations (CNVs) were identified in 10.9% of patients with epilepsy plus (epilepsy with comorbid features) which rose to 12.7% when considering possibly pathogenic CNVs using a systematic filtering workflow adapted to epilepsy.

Why this matters ?

  • Diagnostic algorithm including CNV detection should be considered in patients with epilepsy plus; this may lead to novel declaration of pathogenicity and promote discovery of promising candidate epilepsy genes.