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Title: Epilepsy: Beyond the single nucleotide variant in epilepsy genetics.
Authors: Scheffer, Ingrid E;Mefford, Heather C
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, The Florey, Austin Health, 245 Burgundy Street, Heidelberg, Melbourne 3084, Australia.
Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA.
Issue Date: 12-Aug-2014
Citation: Nature Reviews. Neurology 2014; 10(9): 490-1
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.
Internal ID Number: 25112510
DOI: 10.1038/nrneurol.2014.146
Type: Journal Article
Subjects: Chromosome Disorders.complications
DNA Copy Number Variations.genetics
Appears in Collections:Journal articles

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