Australia-led study in epilepsy breakthrough

An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.

Melbourne University academic Ingrid Scheffer said a number of linked to were known to scientists, but these related to rare families in which a large number of members had the condition.

"The reason that this discovery is very important is that it's not just for rare families, we think it will be a gene that will be important for people without a ," Scheffer told AFP.

"So it's changing the game in terms of being important for a much broader number of people with ."

Focal, or partial, seizures start in one part of the brain and affect the part of the body controlled by that part of the brain.

Scheffer said a could not be made for epilepsy without seizures of some kind but the finding could aid and diagnosis—particularly in cases where everything else in the brain is normal.

"When you have epilepsy people always say, 'Why have I got this?' And this is the next level, which is the ," she said.

"So they will be able to be tested for this gene, and that's important in terms of understanding the cause, in terms of treatment, and hopefully this will one day help outcomes.

"And it's also important in terms of genetic counselling for their own children," she said, meaning people would be able to assess the risk for their own offspring if they were found to have the gene.

The research comes after new gene detection techniques allowed scientists to pinpoint the abnormality, finding it in 12 percent of the 80 families studied, in which one or more members had epilepsy.

"That's huge to find a gene that picks up 12 percent, 12 percent of the common cause of epilepsy," Scheffer said.

"I think that it means that if you look at anybody with focal epilepsy—without an abnormality on their MRIs, what we call a structural abnormality—my guess is that it will be 2-4 percent of them will have this cause."

The research, published in the April issue of the journal Nature Genetics, also involved scientists in Europe and Canada.

Most of the families studied were Australian, but the group included some from Spain, Israel, Italy and elsewhere, Scheffer said.

add to favorites email to friend print save as pdf

Related Stories

New technology is key to better epilepsy treatment

Mar 22, 2013

(Medical Xpress)—University of Adelaide scientists are making a major impact on the understanding and diagnosis of epilepsy, which will lead to individualised treatments for sufferers.

Recommended for you

Scientists discover an on/off switch for aging cells

Sep 20, 2014

(Medical Xpress)—Scientists at the Salk Institute have discovered an on-and-off "switch" in cells that may hold the key to healthy aging. This switch points to a way to encourage healthy cells to keep dividing ...

Gene variant that dramatically reduces 'bad' lipids

Sep 16, 2014

In the first study to emerge from the UK10K Project's cohort of samples from the general public, scientists have identified a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood. ...

New diagnostic method identifies genetic diseases

Sep 16, 2014

People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. Scientists ...

User comments