Largest epilepsy study ever finds high-risk genes

New research identifies rare genetic variations that are associated with a higher risk of epilepsy.

The new study, the largest ever to look at the genetic sequences of people with epilepsy, involved almost 18,000 people worldwide.

The study finds genetic links shared by both severe forms of epilepsy and less severe forms of the disease, says Sam Berkovic, director of epilepsy at Austin Health and a professor at the University of Melbourne.

“There are approximately 50 million people across the world with epilepsy, a condition that causes repeated seizures due to excessive electrical activity in the brain,” Berkovic says.

“Epilepsy comes in a number of different forms ranging from less common variations such as developmental and epileptic encephalopathies that cause severe symptoms to other, less severe forms such as genetic generalized epilepsy and non-acquired focal epilepsy that account for up to 40% of cases.

“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.”

Researchers used sequencing to look at the genes of 17,606 people from across 37 sites in Europe, North America, Australasia, and Asia and found rare genetic variations that are associated with both severe and less severe forms of epilepsy. Researchers coordinated the clinical data in Melbourne and performed the gene sequencing at the Broad Institute in Boston. That portion of the work included 1,370 people, a group five times larger than in any previous research looking at the gene sequencing of epilepsy patients.

“Genetic sequencing has significantly improved our understanding of the risk factors association with epilepsy in recent years,” Berkovic says. “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 personalize the care we give to patients.

“There all 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.”

The results appear in the American Journal of Human Genetics.

Source: University of Melbourne

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