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J Med Genet 50:271-279 doi:10.1136/jmedgenet-2012-101448
  • Neurogenetics

Recent advances in the molecular genetics of epilepsy

  1. Samuel F Berkovic1
  1. 1Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia
  2. 2Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA
  3. 3Florey Neuroscience Institutes, Melbourne, Australia
  4. 4Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia
  1. Correspondence to Professor Samuel F Berkovic, Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia; s.berkovic{at}unimelb.edu.au
  • Received 25 November 2012
  • Revised 24 January 2013
  • Accepted 25 January 2013
  • Published Online First 6 March 2013

Abstract

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk and the clinical management options available for their specific genetic condition. Comprehensive, highly specific and sensitive genetic test results improve the management of patients by neurologists and clinical geneticists. Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery.