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The hidden genetics of epilepsy - a clinically important new paradigm

Lookup NU author(s): Dr Rhys ThomasORCiD


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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. © 2014 Macmillan Publishers Limited.

Publication metadata

Author(s): Thomas RH, Berkovic SF

Publication type: Review

Publication status: Published

Journal: Nature Reviews Neurology

Year: 2014

Volume: 10

Issue: 5

Pages: 283-292

Print publication date: 01/05/2014

Online publication date: 15/04/2014

Acceptance date: 01/01/1900

ISSN (print): 1759-5045

ISSN (electronic): 1759-5053

Publisher: Nature Publishing Group


DOI: 10.1038/nrneurol.2014.62

PubMed id: 24733163