Major study uncovers DNA markers for epilepsy, could lead to new treatments

1 Sep 2023

Image: © vitstudio/

In the largest genetic study of its kind, researchers have discovered genetic markers for epilepsy which could lead to new treatments for the 50m globally who suffer from the condition.

Researchers from the Royal College of Surgeons in Ireland (RCSI), in collaboration with a major international consortium, have built up a broad genetic picture for epilepsy that greatly enhances our understanding of the condition and could lead to more effective treatments.

Epilepsy is a chronic condition that affects around 50m people globally. It’s characterised by seizures, temporary loss of vision and other sensations, and disturbances of movement, mood or other cognitive functions. About one-third of people with the condition are resistant to current treatments.

According to the World Health Organization, the stigma and discrimination about epilepsy is often more difficult to overcome than the seizures themselves, with many countries around the world still harbouring damaging myths about the disease as contagious or the result of morally bad behaviour.

Fortunately, the International League Against Epilepsy (ILAE) is on the case.

In a study published yesterday (31 August) in Nature Genetics, ILAE researchers highlighted results from an investigation into the DNA of 30,000 people with epilepsy and 52,500 people without the condition.

The international team identified 26 distinct areas in DNA that appear to be involved in epilepsy. This includes 19 which are specific to a particular form of epilepsy called genetic generalised epilepsy (GGE). Within these DNA regions, they marked out 29 genes that are probably contributing to epilepsy.

The researchers found that the genetic pictures for focal and generalised epilepsy were markedly different.

As part of their findings, they showed that proteins that carry electrical impulses across the gaps between neurons in our brain contribute to the risk of having generalised forms of epilepsy.

This study confirms that many of the current medications work by targeting the same epilepsy risk genes researchers identified. However, based on their data, the researchers were able to propose some potentially effective alternative drugs. These will need to be clinically tested for use in epilepsy as they are normally used for other conditions, but they are known to target some of the other epilepsy risk genes uncovered.

“This identification of epilepsy-associated genetic changes will allow us to improve diagnosis and classification of different epilepsy subtypes,” said Prof Colin Doherty, who is a co-author of the study, a consultant neurologist at St James’s Hospital and a clinical investigator at the Science Foundation Ireland (SFI) FutureNeuro Research Centre at the RCSI. “This in turn, will guide clinicians in selecting the most beneficial treatment strategies, minimising seizures,” he said.

Another study co-author, Prof Gianpiero Cavalleri, highlighted the importance of “international collaboration on a global scale” to achieve these results. Cavalleri is professor of human genetics at RCSI School of Pharmacy and Biomolecular Science and deputy director of the SFI FutureNeuro Research Centre.

More than 150 researchers across five continents worked together as part of the ILAE consortium to carry out this research. The consortium was formed in 2010 because researchers recognised the complexity of the condition and the need for massive datasets and international collaboration to deepen understanding and treatments, with the goal of improving outcomes for people with epilepsy.

The consortium will now test treatment options and build on this research to further their understanding of epilepsy.

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Rebecca Graham is production editor at Silicon Republic