Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay E, Robert S, Kiziltug E, Damisah E, Nelson-Williams C, Zhu G, Kong W, Huang A, Stronge E, Phillips H, Chhouk B, Bizzotto S, Chen M, Adikari T, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer I, Berkovic S, Haider S, Hildebrand M, Yang E, Gunel M, Lifton R, Richardson R, Blümcke I, Alexandrescu S, Huttner A, Heinzen E, Zhu J, Poduri A, DeLanerolle N, Spencer D, Lee E, Walsh C, Kahle K. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurology 2023, 80: 578-587. PMID: 37126322, PMCID: PMC10152377, DOI: 10.1001/jamaneurol.2023.0473.Peer-Reviewed Original ResearchMeSH KeywordsAdultDrug Resistant EpilepsyEpilepsyEpilepsy, Temporal LobeFemaleHippocampusHumansMaleMiddle AgedMitogen-Activated Protein KinasesNeocortexRetrospective StudiesConceptsDrug-resistant mesial temporal lobe epilepsyMesial temporal lobe epilepsyPathogenic somatic variantsTemporal lobe epilepsyMedian ageLobe epilepsyTemporal neocortexHippocampal tissueLevel 4 epilepsy centerAvailable frozen tissueSomatic variantsControl brain tissueMedial temporal lobectomyNew therapeutic targetsMolecular assaysGene panel sequencingRas/Raf/MAPK signalingAntiseizure medicationsMost patientsCommon indicationGermline genetic variantsEpilepsy centersTemporal lobectomyEpilepsy surgerySex-matched neurotypical controls