Researchers identify genetic links between epilepsy and sudden death
A group of researchers, led by those from Epilepsy Society and University College London, 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 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 towards 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.
Sanjay Sisodiya, Professor of Neurology at University College London and Head of Genetics at Epilepsy Society, commented:
“This discovery is an important step in understanding the causes of sudden death in epilepsy. It gives the scientific community a further hint at how the genetic make-up of a person with epilepsy might contribute to the risk of this devastating outcome in epilepsy. As we look towards more accurate estimation of individual risk, more personalised treatment and perhaps prevention of SUDEP in the future, we need to test our findings further and we would welcome further collaboration in this area.”