Largest ever study finds links in epilepsy genes

Published: September 12 2019
Last updated: September 28 2022

Researchers have taken part in the largest ever study looking at the genes of people with epilepsy.

The international research was published in the American Journal of Human Genetics and involved almost 18,000 people worldwide. The study found rare genetic differences that were linked with a higher risk of epilepsy.

Professor Sam Berkovic is Director of Epilepsy with Austin Health and Laureate Professor with the University of Melbourne. He said the study found there were genetic links shared by several types of epilepsy.

“This research is important because the more we understand the genes that are linked to epilepsy, the better we can tailor treatments to reduce the symptoms and let patients live more active lives,” Professor Berkovic said.

The study brought together more than 200 researchers from across the world to better understand the genetics of epilepsy. They looked at the genes of 17,606 people across Europe, North America, Australasia and Asia.

“Genetic sequencing has significantly improved our understanding of the risk factors associated with epilepsy in recent years,” Professor Berkovic said.

“This study shows that more and less severe forms of the disease share similar genetic features, and the more we understand these features the better chance we have to personalise the care we give to patients.

“There are already plans in place to double the size of the study in the next year to further explore the significance of the genetic variations that are linked with epilepsy.”

For more information on the study, visit