Epilepsy Research Centre

Research Overview

The Epilepsy Research Centre is co-headed by Professor Sam Berkovic and Professor Ingrid Scheffer.

Located at the Melbourne Centre in Heidelberg, the Epilepsy Research Centre is a large cohesive research group within the Department of Medicine at the Austin Health campus. Clinical and molecular genetic studies are conducted by studying individuals and families with a history of seizures using cutting edge research methods and technologies. This is an important Australia-wide study, with strong international collaborations. 

Through a series of Program grants our genetics research is integrated with cutting-edge neuroimaging and basic science. The research group has been responsible for the identification of several epilepsy syndromes and the discovery of many epilepsy genes, including the first gene in 1995. These discoveries continue to reveal new pathways for epileptogenesis meaning that translational treatments back to the patient can and is becoming a reality.  This work was recognized by the 2014 Prime Minister's Prize for Science awarded jointly to Professors Berkovic and Scheffer.

The group is integrated with the Comprehensive Epilepsy Program and Austin  Health  and the Florey group based at Austin with very strong neuroimaging capabilities.   In addition to genetics of epilepsy, we conduct research into new-onset epilepsy, surgical treatment of epilepsy, neuroimaging in epilepsy (with the Florey), outcomes of epilepsy, sudden unexpected death in epilepsy, surgical treatment of epilepsy, autism and non-epileptic paroxysmal disorders.

Staff

  • Professor Samuel Berkovic AC – Director, Adult Neurologist
  • Professor Ingrid Scheffer AO – Director, Paediatric Neurologist
  • Dr Saul Mullen – Research Fellow, Adult Neurologist
  • A/Professor Doug Crompton – Research Fellow, Adult Neurologist
  • Dr Michael Hildebrand, Laboratory Head, Translational Neurogenetics Laboratory
  • Dr Ken Myers - Research Fellow
  • Karen Oliver – Senior Research Assistant
  • Rosie Burgess – Senior Research Assistant
  • Amy Schneider – Senior Research Assistant
  • Bronwyn Grinton – Senior Research Assistant
  • Brigid Regan – Research Assistant
  • Susannah Bellows – Research Assistant
  • Caitlin Bennett - Research Assistant
  • Georgie Hollingsworth - Research Assistant
  • Esther Johns - Research Assistant
  • John Damiano – Senior Research Assistant
  • Amelia McGlade - Research Assistant
  • Dr Yu-Chi Liu - Bioinformatician
  • Lisa Johnson – PA to Prof Berkovic
  • Stephanie Hart - EA to Prof Ingrid Scheffer
  • Rebekah Stubbs - Technical Assistant
  • Tommy Delatycki – Technical Assistant
  • Andrew Moore - Technical Assistant

Collaborators

  • University of Otago, Wellington, New Zealand
  • The Florey Institute of Neuroscience and Mental Health, Melbourne
  • Neurogenetics Research Group, The University of Adelaide
  • Bioinformatics Division, Walter & Eliza Hall Institute
  • Centenary Institute of Cancer Medicine and Cell Biology, The University of Sydney, Sydney
  • Division of Genetic Medicine, The University of Washington, Seattle USA
  • Institute for Genomic Medicine, Columbia University, New York, USA

Funding

  • HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES (Program Grants)  awarded by NHMRC 2016 - 2020
  • UNDERSTANDING THE NEUROBIOLOGY OF AUTISM SPECTRUM DISORDER (Project Grants)  awarded by NHMRC 2016 - 2020
  • The Tasmania Infantile Epileptic Encephalopathy Project (Research Grants)  awarded by EPILEPSY ASSOCIATION OF TASMANIA INC 2013 - 2016
  • SEIZURES AND CARBON DIOXIDE (Project Grants)  awarded by NHMRC 2014 - 2016
  • Unravelling the genetics of the common epilepsies using discordant monozygotic twins (Project Grants)  awarded by NHMRC 2014 - 2016
  • Exploring somatic mutation in focal epilepsies (Project Grants) awarded by NHMRC 2015-2017

Research Opportunities

This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Publications

  • Epi4K Consortium. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet. 2016 Jul 27. [Epub ahead of print]
  • Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW,  Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. Am J Hum Genet. 2016 Jul 20. [Epub ahead of print].
  • Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF,  Mefford HC. A targeted resequencing gene panel for focal epilepsy. Neurology. 2016 Apr 26;86(17):1605-12.
  • Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. Neurology. 2016 Feb 23;86(8):713-22.
  • Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V,  Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15;85(11):958-66.
  • Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T,  Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M,  Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46.
  • Vadlamudi L, Milne RL, Lawrence K, Heron SE, Eckhaus J, Keay D, Connellan M, Torn-Broers Y, Howell RA, Mulley JC, Scheffer IE, Dibbens LM, Hopper JL, Berkovic SF. Genetics of epilepsy: The testimony of twins in the molecular era. Neurology. 2014 Sep 16;83(12):1042-8.
  • Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45(9):1073-6.
  • Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Targeted resequencing in epileptic encephalopathies identifies de novo mutations  in CHD2 and SYNGAP1. Nat Genet. 2013 Jul;45(7):825-30.
  • Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner  AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013 May;45(5):546-51.