Genetic Factors Behind Sudden Death In Epilepsy

Australian researchers say genetic factors could be behind sudden deaths in epilepsy. The condition, sudden unexpected death in epilepsy (SUDEP), kills about 150 Australians a year, it is estimated.

SUDEP is the sudden unexpected death in someone with epilepsy who was otherwise well and in whom no other cause of death can be found despite thorough post-mortem examination and blood tests. SUDEP accounts for approximately half or all epilepsy related deaths.

Fits | Epilepsy | Convulsions - Causes Symptoms Diagnosis Treatment FAQs
Fits or convulsions or Epilepsy is characterized by recurrent, involuntary seizures and is described as a chronic neurological disorder

The newsletter of the Epilepsy Foundation of Victoria says, “A recent Department of Human Services report into avoidable mortality in Victoria between 1997 and 2003 found that epilepsy was in the top five causes of death for ages five to 29. A high proportion of the people who die are young adults. Such deaths deprive our community of vital, young lives, and leave families and friends in shock and grief.”

Now scientists from the Centenary Institute say they could be closer to solving the mystery. They examined blood samples taken from epilepsy suffers who had died suddenly and found that there were genetic faults in the heart and brain.

The institute's Professor Chris Semsarian says the finding will allow doctors to determine if an epilepsy sufferer is at risk of dying suddenly.

Epilepsy and Slides
Epilepsy is a medical condition where the brain cells fire abnormal electrical signals that physically manifests as a ‘Seizure’. There should be two or more seizures before the term epilepsy should be used.

"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," he said.

"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."

A spokeswoman for Epilepsy Australia, Rosey Panelli, said before this study little was known about the deaths. “In the past epilepsy was not well managed and people endured many seizures, and so when sudden death occurred it was often just accepted,” she said.

“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.

Source-Medindia