Epilepsy in twins: the importance of genetic factors

Project Details

The Epilepsy Research Centre has recruited twin pairs with epilepsy through the Australian Twin Registry and other sources since 1988. Using classical twin analyses we have shown which common syndromes have a major genetic component and identified new forms of inherited epilepsy. Clinical data is obtained by personal evaluation of pairs coupled with review of medical records and, where deemed necessary, further evaluation. Genomic DNA samples are available for the majority of twin pairs. Our database currently contains 372 twin pairs in which one or both twins had seizures, with 169 monozygous and 203 dizygous pairs. Our recruitment of twins with epilepsy is ongoing as we focus on utilizing this special cohort for the discovery of new epilepsy genes using next generation sequencing technologies.

Researchers

  • Prof Sam Berkovic, Principal Researcher
  • Dr Michael Hildebrand, Principal Investigator

Collaborators

  • Prof David Goldstein, Columbia University, USA

Funding

  • HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES (Program Grants)  awarded by NHMRC 2016 - 2020
  • Unravelling the genetics of the common epilepsies using discordant monozygotic twins (Project Grants)  awarded by NHMRC 2014 - 2016

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

  • 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.
  • Eckhaus J, Lawrence KM, Helbig I, Bui M, Vadlamudi L, Hopper JL, Scheffer IE,  Berkovic SF. Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Res. 2013 Jul;105(1-2):103-9.
  • Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. Timing of de novo mutagenesis--a twin study of sodium-channel mutations. N Engl J Med. 2010 Sep 30;363(14):1335-40.
  • Helbig I, Lawrence KM, Connellan MM, Torn-Broers Y, Vadlamudi L, Eckhaus J, Milne RL, Hopper JL, Berkovic SF. Obstetric events as a risk factor for febrile seizures: a community-based twin study. Twin Res Hum Genet. 2008 Dec;11(6):634-40.
  • Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK. Gene expression analysis in absence epilepsy using a monozygotic twin design. Epilepsia. 2008 Sep;49(9):1546-54.


Faculty Research Themes

Neuroscience

School Research Themes

Neuroscience & Psychiatry



Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Medicine and Radiology