Oz researchers close to solving mystery of epilepsy deaths

Sunday, November 7, 2010

MELBOURNE - A team of researchers from Australia is on the verge of solving the mystery behind sudden deaths of young people with epilepsy.

Around 150 youngsters, either who are in the late teens, 20s or 30s, die due to the disorder every year.

A team of researchers from the Centenary Institute at the University of Sydney have discovered faulty heart genes may be to blame for death.

The study leader, Chris Semsarian, found genetic mutations linked with a potentially fatal heart disorder known as long QT syndrome in some people who died of the condition.

Long QT syndrome is caused by mutations in a number of genes that affect the body’s ability to regulate electrical activity.

“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,” The Age quoted him as saying.

Semsarian tested blood samples from people who died of sudden unexpected death in epilepsy from 1993 to 2009 for the three most common long QT syndrome genes, and found they were present in 13 per cent of cases.

“That is quite high because we only screened for three genes. There might be 10 or 15 genes that cause the condition,” he added.

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.

The research is published in the journal Brain Pathology. (ANI)

Filed under: Epilepsy

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