Specific DNA changes increase the risk of developing epilepsy, according to the largest genetic study of its kind.
The researchers, coordinated by the International League Against Epilepsy, say their findings, which are published in Nature Genetics, significantly advances knowledge of why epilepsy develops. The researchers also hope it may lead to the development of new treatments for the condition.
In the study, DNA from diverse groups of almost 30,000 people with epilepsy was analysed and compared to the DNA of 52,500 people without epilepsy.
Researchers identified 26 distinct areas in DNA that appear to be involved in epilepsy, 19 of which are specific to a genetic generalised epilepsy (GGE). They also found 29 genes that are likely to contribute to epilepsy within these DNA regions.
Professor Gianpiero Cavalleri, professor of human genetics at RCSI School of Pharmacy and Biomolecular Science, Dublin, Ireland, said: “Gaining a better understanding of the genetic underpinnings of epilepsy is key to developing new therapeutic options and consequently a better quality of life for the over 50 million people globally living with epilepsy.”
The researchers demonstrated how many of the current epilepsy medications target the same epilepsy risk genes that were highlighted in this study, but they also used the data to propose potentially effective alternative drugs.
Professor Colin Doherty, Consultant Neurologist, St James’s Hospital, Dublin, said: “This identification of epilepsy associated genetic changes will allow us to improve diagnosis and classification of different epilepsy subtypes. This in turn, will guide clinicians in selecting the most beneficial treatment strategies, minimising seizures.”
Professor Samuel Berkovic, of the University of Melbourne, Australia, added: “With this study, we have bookmarked parts of our genome that should be the major focus of future epilepsy research. It will form the basis for further work looking at the molecular pathways involved in seizure generation, neuronal dysfunction and altered brain activity.”
More than 150 researchers based in Europe, Australia, Asia, South America and North America worked together as part of the International League Against Epilepsy (ILAE) Consortium on Complex Epilepsies.
Professor Helen Cross, president of the ILAE, said: “This is a major milestone for the ILAE Consortium on Complex Epilepsies, demonstrating what can be achieved when scientists openly collaborate and share data from across the world. The outputs are wide-reaching and applicable to epilepsy patients globally.”
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics 31 August
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