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October 2014

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Researchers Professor Sam Berkovic from the Austin Hospital and Professor Terence O’Brien from the Royal Melbourne.

Researchers lift veil on epilepsy mystery

Melbourne researchers are one step closer to understanding how inherited genes may lead to developing common forms of epilepsy.

Epilepsy experts at the Royal Melbourne and Austin Hospitals genotyped 380 patients from their epilepsy programs as part of a world-wide study of more than 34,000 people – of whom more than 8,000 had epilepsy.

The international consortium was convened by the International League Against Epilepsy.

It brought together investigators from Europe, Asia and North America for the largest genome-wide association study performed for epilepsy.

Epilepsy specialist and Head of the University of Melbourne’s Department of Medicine at the Royal Melbourne Terence O’Brien said the research findings showed the development of epilepsy may be determined by the combination of inherited genes.

‘Epilepsy is the world’s most serious common neurological condition with an estimated 2.4 million new cases occurring each year globally,’ Professor O’Brien said.

‘We knew there was a genetic link to developing epilepsy but this latest study identifies two specific genes that we believe may be strong contributors to epilepsy, one of which had not previously been implicated in its cause.

‘Every new piece of research undertaken is another exciting step to developing better treatments for people with epilepsy, better patient care and, hopefully in the future, solving this puzzle completely.’

Professor Samuel Berkovic from the Austin Hospital and the University of Melbourne, who led the international consortium, said the findings were unexpected.

‘The findings suggest the factors that contribute to common epilepsies are more complex than originally thought and may involve the basic structure of the brain.’

Two genes stood out as having broad implications for epilepsy. 

One, a sodium channel sub-unit that regulates neuronal excitability (SCN1A), had previously been associated with certain familial and severe childhood epilepsies.

This finding suggests it has an even broader role. 

Another gene for the protein protocadherin, which helps bind cells together, was also strongly associated with epilepsy.

Professor Berkovic said the study emphasised the complexity of the genetics of epilepsy and the importance of international collaboration to understand the many factors that contribute to epilepsy.

‘For years we have focused on those genes that regulate the excitability of the brain,’ Professor Berkovic said.

‘Findings such as these really turn our concepts on their head.

‘It was a really exciting finding that will now be used to spearhead further research in this area.’

Melbourne’s role in the genotyping of Victorian patients was funded by the Royal Melbourne Hospital Foundation and the RMH Neuroscience Foundation.

The paper Genetic determinants of common epilepsies: a meta-analysis of genome-wide associate studies was published in the September issue of Lancet Neurology.