Somatic Variants in Ras/Raf/MAPK Pathway Play a Role in Mesial Temporal Lobe Epilepsy

Chen, Hai MD, PhD

Assistant Professor of Clinical Neurology, Weill Cornell Medical College

Neurology Alert 42(10):p 78-79, June 2023.

SYNOSPIS: Eleven somatic variants enriched in the hippocampus were detected in a group of patients with drug-resistant mesial temporal lobe epilepsy (MTLE). Most somatic variants are mutations in the Ras/Raf/mitogen-activated protein kinase (MAPK) pathway. Overactivation of the Ras/Raf/MAPK pathway was detected in MTLE with somatic variants.

SOURCE: Khoshkhoo S, Wang Y, Chahine Y, et al. Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy. JAMA Neurol 2023;May 1:e230473. doi: 10.1001/jamaneurol.2023.0473. [Online ahead of print].