Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/12174
Title: The hidden genetics of epilepsy-a clinically important new paradigm.
Authors: Thomas, Rhys H;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Melbourne Brain Centre, Department of Medicine, Austin and Northern Health, 245 Burgundy Street, Heidelberg, Vic 3084, Australia.
Issue Date: 15-Apr-2014
Citation: Nature Reviews. Neurology 2014; 10(5): 283-92
Abstract: Understanding the aetiology of epilepsy is essential both for clinical management of patients and for conducting neurobiological research that will direct future therapies. The aetiology of epilepsy was formerly regarded as unknown in about three-quarters of patients; however, massively parallel gene-sequencing studies, conducted in a framework of international collaboration, have yielded a bounty of discoveries that highlight the importance of gene mutations in the aetiology of epilepsy. These data, coupled with clinical genetic studies, suggest a new paradigm for use in the clinic: many forms of epilepsy are likely to have a genetic basis. Enquiry about a genetic cause of epilepsy is readily overlooked in the clinic for a number of understandable but remediable reasons, not least an incomplete understanding of its genetic architecture. In addition, the importance of de novo mutagenesis is often underappreciated, particularly in the epileptic encephalopathies. Other genomic surprises are worth emphasizing, such as the emerging evidence of a genetic contribution to focal epilepsies-long regarded as acquired conditions-and the complex role of copy number variation. The importance of improved understanding of the genetics of the epilepsies is confirmed by the positive outcomes, in terms of treatment selection and counselling, of receiving a genetic diagnosis.
Internal ID Number: 24733163
URI: http://ahro.austin.org.au/austinjspui/handle/1/12174
DOI: 10.1038/nrneurol.2014.62
URL: http://www.ncbi.nlm.nih.gov/pubmed/24733163
Type: Journal Article
Subjects: DNA Copy Number Variations.genetics
Epilepsy.etiology.genetics
Family Health
Genetic Testing
Genome.genetics
Humans
Mutation.genetics
Appears in Collections:Journal articles

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