A worldwide study has identified genetic links between severe forms of epilepsy and less severe forms. “Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals” was published last week in the American Journal of Human Genetics.
This study sought to identify whether there was a genetic link between different types of epilepsies in order to better understand the condition and therefore, gain a better understanding of how to treat it.
The research has identified that there are genetic links between the different forms of epilepsy and already, it is planned that the size of this study will be widened over the next year in order to further investigate these links.
Lead author on the study, Professor Sam Berkovic from the University of Melbourne said: "Genetic sequencing has significantly improved our understanding of the risk factors associated with epilepsy in recent years. 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”.
The study enlisted the help of over 200 researchers across the globe, including significant Irish input via the RCSI & FutureNuero, and investigated the genetic data of almost 18,000 people from across the globe.
Epilepsy Ireland would like to thank our colleagues in the RCSI & Future Neuro for their input into this study, the results of which is a further acknowledgement of the expertise and vital importance of Irish researchers on a global level.