Sudden unexpected death in epilepsy (SUDEP) is a condition that kills about 150 Australians a year. Now researchers have discovered the reasons behind such deaths. The study was conducted by scientists at the Centenary Institute at the University of Sydney who looked at blood samples taken from epilepsy suffers who had died suddenly and found that there were genetic faults in the heart and brain.
According to the institute's Professor Chris Semsarian this finding will allow doctors to determine if an epilepsy sufferer is at risk of dying suddenly. “The greatest advantage of these findings is that we will be able to identify in populations of people with epilepsy, those who are at highest risk of dying suddenly and thereby allowing an opportunity to initiate prevention strategies to stop sudden death…This is truly a world first study. It’s the largest study of SUDEP cases that we’ve studied and for the first time in a comprehensive way identified a genetic link between the heart and the brain, in epilepsy,” he said.
Professor Semsarian, who led the study also explained that there are possible genetic mutations linked with a potentially fatal heart disorder known as long QT syndrome in some people who died of the condition. “This is the first bit of information that shows there might be a genetic link between the heart and brain…If we can identify the genes that put people at risk we can initiate treatment to stop these tragedies occurring,” he said.
For the study the team tested the blood of the patients for the three most common long QT syndrome genes, and found they were present in 13 per cent of cases. Professor Semsarian added, “That is quite high because we only screened for three genes…There might be 10 or 15 genes that cause the condition.” More tests are underway he said.
A spokeswoman for Epilepsy Australia, Rosey Panelli also said, “In the past epilepsy was not well managed and people endured many seizures, and so when sudden death occurred it was often just accepted…The tragedy here is they were often parents themselves, and they have friends and work colleagues and the ripples just go on and on…Up until now we had no evidence about why this was happening, so this research is really quite exciting.”
The research is published today in the journal Brain Pathology.
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