Researchers identify genetic links between epilepsy and sudden death

Scientists have made a breakthrough in understanding premature death in people with epilepsy.

A group of researchers, led by those from UCL Institute of Neurology and Epilepsy Society, have discovered that an individual’s genetic make-up may contribute to the risk of sudden unexpected death in epilepsy (SUDEP).

SUDEP is a devastating outcome of epilepsy that tragically takes the lives of about 600 people each year in the UK. This latest breakthrough brings us a step closer to determining risk in individual people, with the eventual aim of preventing deaths through personalised diagnosis and treatment.

By analysing a person with epilepsy’s genes, medical professionals may, in the future, be able to identify the heightened risk of SUDEP in advance, contributing to the quest for prevention.

Genetic sequencing is playing an increasingly important role in healthcare, as it may help patients receive more tailored treatment for their conditions. Epilepsy affects more than half a million people in the UK and a greater genetic understanding will help identify precision treatments, as well as pinpointing the causes and risk factors.

This study is the largest of its kind so far, analysing sequences of 1,479 non-epilepsy disease controls, 18 people who died of SUDEP and 87 living people with epilepsy. This research was funded by the charity Dravet Syndrome UK with contributions from other bodies. SUDEP can occur in any epilepsy, and is more common in some, such as Dravet Syndrome.

Further information:

• Leu, C et al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine (2015).  doi:10.1016/j.ebiom.2015.07.005
• Professor Sisodiya's academic profile