Somatic mutations activating Ras/Raf/MAPK signaling in mesial temporal lobe epilepsy скачать в хорошем качестве

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. These works are owned by Magdalen Medical Publishing (MMP) and are protected by copyright laws and treaties around the world. All rights are reserved.