Epilepsy 'master gene' found

Scientists believe they have identified a "master gene" linked to epilepsy and learning difficulties.

Although other genes which can help cause epilepsy have already been identified, this gene controls how, where and when other genes work, affecting the way the brain functions.

The Australian team behind the research said their discovery was likely to impact most on families and isolated cases with "non-specific" learning difficulties.

Until now these could only be diagnosed by delayed development and intellectual impairment.

The researchers, from the Women's and Children's Hospital in Adelaide, estimate up to 2% of the population suffers from learning difficulties and the same percentage from epilepsy.

The really novel aspect to this gene is its involvement in epilepsy as well as in intellectual disability

Dr Jozef Gecz, Women's and Children's Hospital

Epilepsy and learning difficulties often occur together and frequently have genetic causes.

In the UK, around one in every 130 people has epilepsy, a neurological condition which describes the tendency to have recurrent seizures.

The researchers were puzzled that the same mutation in this gene can give rise to a range of conditions.

These include epilepsy, West syndrome (a type of epilepsy affecting children), dystonia (a muscle tone disorder causing muscle contraction) and learning difficulties.

But they suggest the way the master gene affects other genes could hold the answer.

Genetic mutation
Researchers obtained genetic material from nine families in Norway, Canada, Belgium, and Australia.

Dr Jozef Gecz, from the hospital's Department of Cytogenetics and Molecular Genetics, led the research.

He said: "This gene is found on the X-chromosome and is one of probably 100 genes on that chromosome, which when mutated, can cause intellectual disability.

"The really novel aspect to this gene is its involvement in epilepsy as well as in intellectual disability."

He said more work needed to be done to isolate other genes affected by the master gene and to establish why the same mutation could cause different conditions.

"It will be very interesting to know the identity of these genes that are under control of this master gene as they may potentially be involved in either epilepsy, intellectual disability, or both."

A spokesperson for the British Epilepsy Association told BBC News Online: "We view this recent research with considerable interest.

"Epilepsy that effects children, such as West Syndrome, can have a considerable impact on families, so anything that could potentially help these families or increase understanding about the condition is to be welcomed.