Working in conjunction with a team of international research specialists, University of South Australia researchers have tracked down a hereditary gene responsible for a common form of epilepsy, known as focal or partial epilepsy.

Published in the prestigious journal Nature Genetics, the research proves the hereditary nature of a form of epilepsy, previously believed to be caused by structural abnormalities,

Focal epilepsy accounts for about 60 per cent of all occurrences of the disease.

“Focal epilepsy was not previously thought of as being inherited and identifying this gene will help in the diagnosis and treatment of many people with epilepsy,” UniSA’s Associate Professor Leanne Dibbens says. 

“It is also particularly important for families to know more about why and how this kind of epilepsy occurs.”

“Previously genes for focal epilepsy have been identified for rare familial epilepsies but this new gene is also relevant to patients without a strong family history of the disorder,” Assoc Prof Dibbens says.

She says a small proportion of people with abnormalities of this gene also have intellectual disabilities, psychiatric or autism spectrum disorders.  The gene makes a protein that is found within nerve cells and appears to be important for signalling within cells.

“As we learn more about its function, and understand the epilepsies and other conditions associated with its malfunction, we hope it will lead to improvements in clinical care,” she says. 

“The discovery promises to change clinical practice.

“With what we now know, a genetic cause can be investigated in patients with focal epilepsy and, in cases where it is found, unnecessary other investigation can be avoided, accurate genetic counselling can be given and, in the future, there is a better knowledge base from which specific therapies can be developed to help people with epilepsy.”