We fight to improve the lives
of everyone affected by epilepsy

Epilepsy susceptibility gene identified

18 May 2004

A new study, led by researchers at The Women's and Children's Hospital in Adelaide, has identified the first susceptibility gene for the common forms of epilepsy.

Working in collaboration with Bionomics and the University of Melbourne,
the researchers analysed samples from 203 patients with epilepsy and
led to the identification of three gene changes which were possibly
involved in epilepsy.

gene changes were then measured using a human cell culture system and
the observed functional changes in these cells confirmed the
identification of a susceptibility gene for epilepsy.

Dr John Mulley, head of Molecular Genetics at the Hospital, said:

this gene inhibits excitability in brain cells, but when the gene is
mutated this inhibition is reduced allowing over-excitability in the
brain with resulting seizures."

people in the general population have changes in the gene which, in
themselves, are not sufficient to cause epilepsy. There are other
factors involved such as similar changes in other, still to be
discovered, genes together with environmental factors.

Mulley led the research scientists from the Women's and Children's
Hospital working at Bionomics and is involved in ongoing research to
discover genes associated with epilepsy. The team has been responsible
for discovery of approximately half of the known genes for the less
common epilepsies which represent less than 1 per cent of epilepsy.