Link between SUDEP and heart conditions established

Posted Apr 11 2016 in Conditions related to epilepsy

Scientists in Australia have identified a genetic link between sudden unexpected death in epilepsy (SUDEP) and heart conditions, which could potentially help the prevention of these deaths in the future.

The research, led by the University of Sydney and the Centenary Institute, represents the largest genetic study into SUDEP in the world, and it is the first to identify a possible genetic link between the heart and the brain in people with epilepsy.

Advanced technology was used to examine all 22,000 genes of 61 people who had suffered SUDEP, in order to see if there were any that were particularly different to ‘normal’. The researchers also screened the subjects for gene mutations linked to problems with heart rhythm and breathing control, to see if they occurred more frequently in these people than would usually be expected.

The results of the study, published in the Annals of Neurology, indicate that genetic changes causing an irregular heart beat are associated with sudden unexpected epilepsy-related deaths. Enhancing our understanding of SUDEP in this way will hopefully enable doctors to identify people who are at a particularly high risk, and possibly even help the development of methods to prevent it.

Professor Chris Semsarian. a cardiologist at the University of Sydney, said: “If we can understand why SUDEP occurs, we can work towards preventing it. These new findings provide a platform to initiate available treatment options, such as antiarrhythmic drugs or implantable defibrillators, with the ultimate goal to prevent SUDEP in the community.”

As the name suggests, SUDEP is the term used to describe cases in which a person with epilepsy dies suddenly and unexpectedly, with no obviously identifiable cause of death. It is estimated to affect one in 1,000 people with epilepsy.

Approximately 600 people in the UK die as a result of SUDEP each year, and people with frequent, uncontrolled seizures are understood to be particularly at risk.

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