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Epilepsy Research Group

Clinical Genetics Group

Prof. Sam Berkovic
Laureate Professor

Department of Medicine (AH)
University of Melbourne
[p]: +61-3-9035-7093
[f]: +61-3-9496 2291
Sam Berkovic   Prof. Ingrid Scheffer
Professor of Paediatric Neurology Research
Department of Medicine (AH) University of Melbourne
[p]: +61-3-9035-7112
[f]: +61-3-9496 2291
Ingrid Scheffer


Research Focus

Together with our colleagues in Adelaide we are responsible for the discovery of the first epilepsy gene (a nicotinic receptor subunit CHRNA4) in 1995 and since that time we have continued to be the international leaders in gene discovery for epilepsy.  The overall rationale is that by understanding the basic molecular mechanisms of the inherited epilepsies we will get a deeper understanding into the disorder, with implications for diagnosis and development of new treatments. 

The current directions of our group include mapping families with monogenic epilepsies, which are ascertained both in Australia and overseas.  Here the strategy is to obtain large families or those where the clinical genetics will lend itself to rapid identification of the gene locus.  Secondly, we are expanding into the area of genome wide associations and identification of genes for common epilepsies that involve large-scale studies with international collaborations. 

Studies in adults are integrated with studies in children (see Paediatric Epilepsy, Autism and Mental Retardation Group).  We are also expanding our interests into disorders that mimic epilepsy, including syncope, and are currently attempting to identify genes for this common disorder. 



Clinical Genetics Research Staff:

  • Prof. Samuel Berkovic, Director, Epilepsy Research Centre, Neurologist
  • Prof. Ingrid Scheffer, Director, Childrens’ Epilepsy Program
  • Dr Saul Mullen, Neurologist, Epilepsy Fellow, PhD student
  • Dr Patrick Carney, Neurologist, Epilepsy Fellow, PhD student
  • Dr Karl Martin Klein, Epilepsy Fellow, PhD student
  • Dr Daniel Carranza, Paediatric Epilepsy Fellow
  • Dr Kheng Seang Lim, Neurologist, Epilepsy Fellow, PhD student
  • Dr Meng-Han Tsai, Epilepsy Fellow
  • Bronwyn Grinton, Senior Research Assistant
  • Jacinta McMahon, Senior Research Assistant
  • Kate Lawrence, Senior Research Assistant
  • Karen Oliver, Senior Research Assistant
  • Susannah Bellows, Research Assistant
  • Brigid Regan, Research Assistant
  • Rosemary Burgess, Research Assistant
  • Sinead Heavin, Research Assistant
  • Elisa Cops, Research Assistant
  • Amy Schneider, Research Assistant
  • Sarah Garry, Research Assistant

Administration Staff:

  • Lisa Johnson, P.A. to Prof. Berkovic
  • Natalie Turner, P.A. to Prof. Scheffer
  • Holly McManus, Technical Assistant
  • Sarah Wallace, Technical Assistant


Techniques Used

  • High level clinical phenotyping and identification of epilepsy syndromes.
  • Clinical genetic analyses.
  • Development of endophenotypes for identification of traits for genetic analysis (eg, photosensitivity).
  • Imaging
  • Use of clinical investigations to aid in the characterization of phenotypes including high level imaging techniques (MRI and PET), neuropsychological evaluation, electrophysiological analyses.



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