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Published: 09 April 2013

Epilepsy gene discovery welcomed

Professor Sanjay Sisodiya, Epilepsy Society’s head of genetics, has welcomed the discovery of a gene associated with the most common form of epilepsy. He said: ‘The discovery of a genetic cause for a familial epilepsy is always of interest - not only because it can help us understand epilepsy in members of that family, but also because the discovery may cast light on mechanisms that might more be of more general interest.

‘This particular discovery is especially interesting as mutations in the same gene appear to be able to cause more than one type of familial epilepsy. The challenge now is to understand how this happens.’

Genetic counselling

The international research team who made the discovery, led by Professor Ingrid Scheffer of the University of Melbourne, hope their findings will help towards diagnosis, the development of treatments and, through genetic counselling, will help people plan a family.

One in 100 people have epilepsy and most do not know the cause of their condition. The research will help some of those with the most common form, focal epilepsy, discover the underlying cause.

Prof Scheffer says a gene test will help in cases where everything else in the brain looks normal.

‘It will give you a cause. That has important implications in terms of genetic counselling and managing the risk to your own offspring.’

Preconceptual counselling

A small proportion of people with the gene also have psychiatric or autism spectrum disorders, says Prof Scheffer, a senior principal research fellow at the Florey Institute of Neuroscience and Mental Health. ‘Therefore genetic counselling is even more important.

‘Knowing the gene means people can go forward and get pregnant and have proper medical assistance to ensure their baby does not have the disorder.’
Prof Scheffer says 90 families took part in the study, which was conducted in partnership with Associate Professor Leanne Dibbens from the University of South Australia.

One of the participants, 25-year-old Vicky, is battling to digest the implications of the discovery.

‘This puts the possibility of children into my thoughts for the first time,’ says the Melbourne administration assistant, who does not want her full name disclosed.

‘This opens so many doors for people who want to have children. The possibility of children is a major U-turn for me.’

Scientists in Europe and Canada also worked on the research, which is published in the 1 April 2013 issue of the journal Nature Genetics.