AES 2023 | Investigating the role of somatic mosaicism in epilepsy

Kristen Park, MD, Children’s Hospital Colorado & University of Colorado School of Medicine, Aurora, CO, discusses the excitement surrounding the potential role of somatic mosaicism in various epilepsy disorders. Growing evidence suggests that genetic variants acquired during cortical development may contribute to brain malformation development and give rise to diverse epilepsy phenotypes. Dr Park highlights the evolving field of genetic testing, emphasizing the growing use brain tissue testing in patients undergoing epilepsy surgery. In some cases, analysis has revealed mutations in known epilepsy genes solely showing up in the brain tissue. This information could reshape treatment approaches, potentially highlighting agents that can be used based on genetic factors identified in the brain.This interview took place during the American Epilepsy Society (AES) 2023 Annual Meeting congress in Orlando, FL.

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