AES 2022 | Do genetics play a role in post-traumatic epilepsy?

Ramon Diaz-Arrastia, MD, PhD, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, and his team are looking into the molecular, cellular, and tissue level mechanisms of neuronal injury and the epileptogenic processes that can occur after brain trauma. As with most neurological disorders, genetics are thought to play a role in outcome variability after traumatic brain injury. Several candidate gene association studies have been published but have often been underpowered and difficult to replicate. Genome-wide association studies of post-traumatic epilepsy would likely identify both common variants that individually have little impact on risk, and rare variants that produce a much higher relative risk. Beyond determining risk, these studies would also highlight molecular pathways likely to be involved in the epileptogenic process that could be targeted in future research. The necessary large sample sizes have prevented such a study as of yet. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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