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AES 2022 | Somatic mutations activating Ras/Raf/MAPK signaling in mesial temporal lobe epilepsy

Sattar Khoshkhoo, MD, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, discusses the emerging understanding of the role of post-zygotic mutations in neurologic diseases, particularly pediatric focal epilepsies. Somatic variants in the hippocampus can give rise to epilepsy later in life, specifically mesial temporal lobe epilepsy. Dr Khoshkhoo describes a study where tissue samples from individuals with drug-resistant epilepsy were analyzed, revealing somatic variants in a signaling pathway, the Ras/Raf/MAPK pathway. This finding has potential implications for treatment decision-making and surgical prognostication in epilepsy patients, as well as the development of disease-modifying treatments. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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