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https://ahro.austin.org.au/austinjspui/handle/1/12338| Title: | Epilepsy: Beyond the single nucleotide variant in epilepsy genetics. | Austin Authors: | Scheffer, Ingrid E ;Mefford, Heather C | Affiliation: | Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA Epilepsy Research Centre, Department of Medicine, University of Melbourne, The Florey, Austin Health, 245 Burgundy Street, Heidelberg, Melbourne 3084, Australia |
Issue Date: | 12-Aug-2014 | Publication information: | 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. | Gov't Doc #: | 25112510 | URI: | https://ahro.austin.org.au/austinjspui/handle/1/12338 | DOI: | 10.1038/nrneurol.2014.146 | Journal: | Nature reviews. Neurology | URL: | https://pubmed.ncbi.nlm.nih.gov/25112510 | Type: | Journal Article | Subjects: | Chromosome Disorders.complications DNA Copy Number Variations.genetics Epilepsy.etiology.genetics Female Humans Male |
| Appears in Collections: | Journal articles |
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