Journal article

The hidden genetics of epilepsy - A clinically important new paradigm

RH Thomas, SF Berkovic

Nature Reviews Neurology | Published : 2014

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 readi..

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Funding Acknowledgements

S.F.B. declares that he has received honoraria and/or payments for development of educational presentations from Janssen-Cilag, Novartis Pharmaceuticals, Sanofi-Aventis, and UCB Pharma, and that he is an inventor on a patent for SCN1A testing owned by Bionomics and licensed to various diagnostic companies (WO/2006/133508); he has also applied for a patent for PCDH19 testing (WO/2009/086591). R.H.T. declares no competing interests.