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19 August 2014

Epilepsy Society plays key role in study to unravel mysteries of epilepsy

An international group of researchers including the epilepsy genetics team at the Institute of Neurology and Epilepsy Society, has made an important step in discovering whether or not our genes determine our chances of developing epilepsy.  

There has always been a question about why some people develop epilepsy causing them  to have repeated seizures while others do not. The study set out  to find the genes that increase the risk of developing epilepsy and  involved a genome wide association study of over 34,000 people of European, Asian and African ancestry. More than 8,000 of them had epilepsy. 

The research, reported in Lancet Neurology, was carried out by the  International League Against Epilepsy Consortium on Complex Epilepsies - a group of scientists from Europe, Asia and North America. Researchers from the Institute of Neurology and Epilepsy Society team were led by Professor Sanjay Sisodiya.

Genes contributing to epilepsy

Researchers found that two genes stood out as having broad implications for epilepsy.  One, a sodium channel subunit 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.  This discovery was unexpected and suggests that the factors that contribute to common epilepsies are more complex than originally thought, and may involve the basic structure of the brain.  

Dr Sam Berkovic, an internationally recognised epilepsy genetics researcher who  was part of the consortium, said the study emphasises the complexity of the genetics of epilepsy and the importance of the collaboration of multinational groups.

Exciting find

'For years we have focused on those genes that regulate the excitability of the brain.  Findings such as these really turn our concepts on their head.  It was a really exciting finding,' said Dr Berkovic. 'There are few international centres that were in the position to play a role in this major group collaboration. We were particularly fortunate to recruit the epilepsy genetics team at the Institute of Neurology and Epilepsy Society, under the leadership of Professor Sanjay Sisodiya.  Their extraordinary skills in these types of studies were key to the success of this effort.'

 Emilio Perucca, president of the International League Against Epilepsy commented: 'We are very pleased that the League has been able to bring together this outstanding group of researchers in our efforts to provide better treatments for the disease. It is a great example of how an international organisation can play a key role in bringing people together around a common goal.”  

Read more about Epilepsy Society's research into the underlying genetic causes of epilepsy.