Sudden Unexpected Death in Epilepsy (SUDEP)

Researcher

• 
  Associate Professor Doug Crompton

  douglas.crompton@unimelb.edu.au

  View researcher's webpage

  +61 3 9035 7330

Project Details

Very rarely, people with epilepsy can have a seizure (usually a convulsion) and die soon after.  This tragic event is known as Sudden Unexpected Death in Epilepsy (SUDEP).   In order to work towards preventing SUDEP, we need better understanding of how and why it happens.  Together with Prof Chis Semsarian, cardiologist, and Dr Richard Bagnall, genetic scientist, from the Centenary Institute in Sydney, we are searching for genes that may increase risk of SUDEP by looking for gene changes in people who have died of SUDEP.  We are also meeting the close relatives of people who have died of SUDEP, as studying the wider family may provide additional useful information about the risks of SUDEP.

Researchers

• A/Prof Doug Crompton

Collaborators

• Prof Chris Semsarian, Centenary Institute of Cancer Medicine and Cell Biology, The University of Sydney, Sydney

Funding

• HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES (Program Grants)  awarded by NHMRC 2016 - 2020

Research Publications

• Bagnall RD, Crompton DE, Petrovski S, Lam L, Cutmore C, Garry SI, Sadleir LG,  Dibbens LM, Cairns A, Kivity S, Afawi Z, Regan BM, Duflou J, Berkovic SF, Scheffer IE, Semsarian C. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 Apr;79(4):522-34.
• Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E,  Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Genome-wide Polygenic Burden  of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine. 2015 Jul 10;2(9):1063-70.  
• Bagnall RD, Crompton DE, Cutmore C, Regan BM, Berkovic SF, Scheffer IE, Semsarian C. Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. Neurology. 2014 Sep 9;83(11):1018-21.