In the largest genetic analysis performed to date, coordinated by the International League Against Epilepsy (ILAE) and published in Nature Genetics, researchers from around the world sought to advance our knowledge of why epilepsy develops and potentially inform the development of new treatments for the condition. The researchers identified 26 distinct areas in our DNA that appear to be involved in epilepsy. This included 19 which are specific to a particular form of epilepsy called ‘genetic generalized epilepsy’ (GGE). They were also able to point to 29 genes that are probably contributing to epilepsy within these DNA regions.
The scientists found that the genetic picture was quite different when comparing distinct types of epilepsy, in particular when “focal” and “generalized” epilepsies were compared. The results also suggested that proteins that carry electrical impulse across the gaps between neurons in our brain make up some of the risk for generalized forms of epilepsy. This webinar will discuss the results of this genetic analysis in greater detail.
Speaker
Dr. Samuel Berkovic is Laureate Professor in the Department of Medicine, University of Melbourne, and Director of the Epilepsy Research Centre at Austin Health. He is a clinical neurologist and clinical researcher with a special interest in establishing close research links with basic scientists. His work with Laureate Professor Ingrid Scheffer, together with molecular genetic collaborators in Adelaide and Germany, discovered the first gene for epilepsy in 1995 and subsequently, he has been central to the discovery of many epilepsy genes. He is currently leading EPI25, a global initiative with the Broad Institute at Harvard University to sequence over 25,000 individuals with epilepsy and was a member of the Steering Committee for CURE Epilepsy’s Epilepsy Genetics Initiative (EGI).
The information contained herein is provided for general information only and does not offer medical advice or recommendations. Individuals should not rely on this information as a substitute for consultations with qualified healthcare professionals who are familiar with individual medical conditions and needs. CURE Epilepsy strongly recommends that care and treatment decisions related to epilepsy and any other medical condition be made in consultation with a patient’s physician or other qualified healthcare professionals who are familiar with the individual’s specific health situation.