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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.
|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|
DNA Copy Number Variations.genetics
|Appears in Collections:||Journal articles|
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