title: CNVs in Epilepsy.
abstract: Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over the past 5 years, studies of patients with epilepsy confirm that both recurrent and non-recurrent CNVs are an important source of mutation for patients with various forms of epilepsy. Here, we will review the latest findings and explore the clinical implications.
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, RR349A, Box 356320, Seattle, WA USA.
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
keywords: Copy number variants; Epilepsy; Microdeletions; Neurodevelopmental disorders