MEDIA RELEASE
Embargoed: AEDT 0100 Sunday 7 November 2010
HEART AND MIND LINK DISCOVERED IN
SUDDEN UNEXPECTED DEATHS IN EPILEPSY
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of epilepsy-
related death and responsible for about 150 Australian deaths each year¹ yet the underlying
cause has remained a mystery. New findings from the Centenary Institute have revealed
faulty heart genes may be the missing link, according to research published today in Brain
Pathology.
SUDEP is the term applied to sudden death occurring in a person with epilepsy for no
apparent reason. When such a death occurs and all other possible causes of death are
excluded, SUDEP is usually attributed as the cause of death.²
“Sudden unexpected death in epilepsy occurs mainly in young people so these findings
could have a huge impact in saving lives through early diagnosis. The ultimate goal will be to
use genetic screening of patients with epilepsy to identify these gene mutations that could
increase the risk of sudden unexpected death,” said lead author Centenary Institute and
University of Sydney Head of Molecular Cardiology Professor Chris Semsarian
The research of people with epilepsy who had died from a sudden unexpected death
discovered the presence of certain genetic mutations found in a potentially fatal heart
disorder known as long QT syndrome. Long QT syndrome is caused by mutations in more
than 10 genes and eight of these can interfere with the ion channel of cell membranes and
disrupt their ability to regulate electrical activity in our body. This disruption of the ion
channels can lead to abnormal, life-threatening heart rhythms.
The link was discovered by the researchers who checked the post-mortem blood samples of
cases of sudden unexpected death in epilepsy from 1993 to 2009 for the three most
common long QT syndrome genes (KCNQ1, KCNH2 (HERG), SCN5A). Of the 48 cases that
could be analysed, the researchers found the faulty genes were present in six (13%) cases.
While the findings are a major first step in understanding the cause of sudden unexpected
death in epilepsy, more research is needed to determine the exact role these genetic
mutations play.
Professor Semsarian said: “These findings clearly demonstrate 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 at 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.”
–
ends –
1. Australian Institute of Health Welfare. Annex Table 2: Deaths by cause, sex and mortality stratum in WHO regions, estimates
for 2002. World health report [document on internet]. Canberra: AIHW, 2004 [cited 2009 Jun 1].
2. Black M. SUDEP and the post mortem. In Chapman D, Moss B, Panelli R, Pollard R, eds. Sudden unexpected death in
epilepsy: a global conversation. Camberwell: Epilepsy Australia & Epilepsy Bereaved, 2005;20-21.
Media Contact: Tanya Sarina, Communications Manager at the Centenary Institute
p: 02 9565 6228
m: 0431 029 215
e: t.sarina@centenary.org.au
About the Centenary Institute: The Centenary Institute is an independent medical research institute,
affiliated with Royal Prince Alfred Hospital and the University of Sydney. Our unique blend of highly
skilled staff and state-of-the art equipment and facilities has allowed us to become world leaders in
three critical areas of medical research – cancer, cardiovascular disease and infectious diseases. For
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