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2 November 2015

Gene mutation risk for SUDEP?

A small study looking at four generations of one family found that nine members with epilepsy all had a mutation in the gene DEPDC5. Two of these family members died from Sudden Unexpected Death in Epilepsy (SUDEP).

DNA strandsThe gene DEPDC5 was first identified in 2013 and is thought to be associated with many different types of epilepsy.

The recent study was carried out by scientists at Krembil Neuroscience Centre in Toronto, Canada and published in Neurology Genetics, an official journal of the American Academy of Neurology. Researchers hope that further studies will help to identify whether this mutation increases the risk of death in epilepsy.

Genetic evaluation for SUDEP

Professor Sanjay Sisodiya, director of clinical genetics at Epilepsy Society said  the results were interesting and he hoped more studies would be able to elucidate further the role of DEPDC5 in SUDEP.

'Our own research at Epilepsy Society has highlighted the potential role a person's genetic make-up could  play in contributing to the risk of SUDEP,' he said.

'Unravelling the genetic architecture that underlies SUDEP is a key focus of our research. Several 'candidate' genes for SUDEP have been identified and we hope that research at centres across the globe will bring us closer to determining individual risk.

'It is too soon to talk about some form of early genetic evaluation for risk of SUDEP, but I hope this will be a possibility in the future.'

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