Oncologist Dr. Belinda Yeoh and a patient


Eleven new epilepsy genes found

14 December 2018

Austin Health epilepsy researcher Professor Sam Berkovic led a global research team that has discovered 11 new genes associated with epilepsy. The discovery points the way to develop new drugs that might benefit millions of patients around the world, who do not respond to existing treatments.

Researchers led by Austin Health Director of Epilepsy and University of Melbourne Clinical Neurologist Sam Berkovic, compared the DNA of more than 15,000 people with epilepsy to the DNA of 30,000 people without the disorder.

The results published yesterday in Nature Communications, tripled the number of known genetic associations for epilepsy and - importantly - implicated 11 new genes which have a number of different functions in the human body, including:

  • Regulating interactions between brain cells
  • Converting vitamin-B6 into its active form, potentially making some forms of epilepsy easily treatable
  • How proteins are made from the blueprint of genes

The researchers found most available anti-epileptic drugs directly target one or more of these genes, but they also identified an additional 166 drugs that do the same.

Professor Berkovic said the discovery was significant because with current treatment options a third of the 65 million epilepsy patients worldwide cannot be effectively treated to be free of seizures.

“These drugs we’ve identified already exist but may show promise for treating epilepsy as they directly target the genetic basis of the disease,” Professor Berkovic said.

“With our findings, we hope that in the future more people with epilepsy will achieve seizure freedom.”

Professor Berkovic said epilepsy’s cause had long been shrouded in mystery.

“We now understand that the cause is largely genetic, but little was known about the specific genes responsible for the most common forms of the disorder,” he said.

Professor Berkovic said more than 150 researchers from multiple centres in the UK, Europe, USA, Brazil, Hong Kong and Australia who are part of the International League Against Epilepsy Consortium on Complex Epilepsies took part in the study.


The next step would be replicating these results in an even larger sample, which is underway, and then drilling down on specific groups of patients and the genes that influence their type of epilepsy to trial new therapies, Professor Berkovic said.