Friday, April 05, 2013

Genetic discovery for common form of epilepsy

Research from Australia has found a gene indicating one of the most common forms of epilepsy. This could have major implications for future treatment options.


An Australian-led international research team has discovered a gene associated with the most common form of epilepsy, a discovery that will help with diagnosis and new treatments.

Through genetic counselling, it will help people plan a family, lead researcher Professor Ingrid Scheffer of the University of Melbourne said.

Two per cent of 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.

Professor Scheffer said a gene test would help in cases where everything else in the brain looked normal. ''It will give you a cause. That has important implications in terms of genetic counseling and managing the risk to your own offspring.''

She said a small proportion of people with the gene also had psychiatric or autism-spectrum disorders.

''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.''

Professor Scheffer said 90 families took part in the study, which was conducted in partnership with Associate Professor Leanne Dibbens of the University of South Australia.

Scientists in Europe and Canada also worked on the research, which is published in the journal Nature Genetics.

Read more here

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