Epilepsy is a neurological condition that causes recurrent seizures and affects about 2% of people globally
A total of 8,000 people in Australia, Asia, North America and Europe were screened using new technology to provide them with a large enough sample to identify the two recurring genes.
The head of medicine at the Royal Melbourne Hospital and the University of Melbourne, Professor Terry O’Brien, was involved in the Australian arm of the study.
He told AM the study was a significant breakthrough for genetic generalized epilepsies.
“What we discovered is that there are two genes that seem to be particularly important in determining this form of epilepsy,” Professor O’Brien said.
“One is probably not all that surprising. It’s in a gene that is called an ion channel, one of the proteins that triggers nerve cells to fire.
“But the other is in a gene that’s called protocadherin, which is involved with how nerve cells connect up together, which is something that has not been previously thought to be involved in this form of epilepsy.
“[It] indicates a whole new mechanism by which these epilepsies may occur, and potentially and avenue by which new treatments can be directed.”
He said epilepsy often runs through families.
“It’s what’s called complex genetics, so a single gene by itself doesn’t determine the epilepsy, but rather combinations of genes that come together in that individual that are carried in families.
“And because its complex, you need a lot of power to identify the different components.”
Professor O’Brien said current treatments only suppress epileptic seizures, but this discovery could allow them to pinpoint the mechanism that fundamentally causes them.
“The holy grail for epilepsy treatment is treatments that do not just suppress the seizures, but actually fundamentally alter the condition so the patients could be potentially cured of their epilepsy.
“If we can identify treatments that actually change the underlying condition, then patients may not need to take medications forever, which is what they currently do.”
But he said it was difficult to say how far away a new treatment could be.
“But there’s a lot of energy in the international world invested towards trying to develop what are called disease modifying treatments for epilepsy.
“The trick has really been to know which targets to look for, so having a target actually gives us a long, a big boost along the way to get to that goal.”