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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12338
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dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorMefford, Heather Cen
dc.date.accessioned2015-05-16T02:01:22Z
dc.date.available2015-05-16T02:01:22Z
dc.date.issued2014-08-12en
dc.identifier.citationNature Reviews. Neurology 2014; 10(9): 490-1en
dc.identifier.govdoc25112510en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12338en
dc.description.abstractCopy 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.en
dc.language.isoenen
dc.subject.otherChromosome Disorders.complicationsen
dc.subject.otherDNA Copy Number Variations.geneticsen
dc.subject.otherEpilepsy.etiology.geneticsen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.titleEpilepsy: Beyond the single nucleotide variant in epilepsy genetics.en
dc.typeJournal Articleen
dc.identifier.journaltitleNature reviews. Neurologyen
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USAen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, University of Melbourne, The Florey, Austin Health, 245 Burgundy Street, Heidelberg, Melbourne 3084, Australiaen
dc.identifier.doi10.1038/nrneurol.2014.146en
dc.description.pages490-1en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/25112510en
dc.type.austinJournal Articleen
local.name.researcherScheffer, Ingrid E
item.grantfulltextnone-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
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