title: Epilepsy: Beyond the single nucleotide variant in epilepsy genetics.
abstract: Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy could be attributed to a pathogenic CNV in 5% of patients, but understanding the implications of a CNV for an individual patient can be challenging.
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, The Florey, Austin Health, 245 Burgundy Street, Heidelberg, Melbourne 3084, Australia.
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.affiliation: Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA.
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
mesh_terms: D025063:Chromosome Disorders / Q000150:complications*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004827:Epilepsy / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male
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