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Epilepsy: what causes sudden unexpected death?

Research at the Centenary Institute and The University of Sydney may well lead to finding the underlying cause of sudden unexpected death in epilepsy (SUDEP). Though SUDEP is the most common cause of epilepsy-related death and is responsible for about 150 deaths in Australia each year, its genesis not known.

15 Nov 2010

Research at the Centenary Institute and The University of Sydney may well lead to finding the underlying cause of sudden unexpected death in epilepsy (SUDEP).

Though SUDEP is the most common cause of epilepsy-related death and is responsible for about 150 deaths in Australia each year, its genesis not known.

The research team set out to use genetic screening of patients with epilepsy to identify gene mutations that could increase the risk of sudden unexpected death. They have discovered certain mutations found in the potentially fatal heart disorder known as long QT Syndrome, caused by mutations in more than 10 genes. Eight of them can interfere with the ion channel of cell membranes and affect their ability to regulate electric activity in the body. Disruption of the ion channels can lead to abnormal, life-threatening heart rhythms.

The link was discovered when the researchers checked the post-mortem blood samples of SUDEP cases between 1993 and 2009 for the three most common long QT Syndrome genes: KCNQ1, KCNH2 and SCN5A. Faulty genes were found in six (13 per cent) of the 48 cases that could be analysed.

This first step in understanding the cause of SUDEP needs more research to determine the exact role that the genetic mutations play, lead author Prof Chris Semsarian says.

The research team’s findings clearly demonstrate that genetic mutations that disrupt the ion channels play a role in sudden death in people with epilepsy. “However, we were unable to review medical histories to look a family history of sudden death, epilepsy and/or long QT syndrome, so it remains to be determined whether these changes are the genetic cause or an accompanying risk factor.”

The team’s findings have been published in Brain Pathology.


Published: 15 Nov 2010