Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.,JAMA Neurology

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Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
JAMA Neurology ( IF 29.0 ) Pub Date : 2023-05-01 , DOI: 10.1001/jamaneurol.2023.0473
Sattar Khoshkhoo _{1,

2,

3} , Yilan Wang _{2,

4} , Yasmine Chahine ₂ , E. Zeynep Erson-Omay ₅ , Stephanie M. Robert ₅ , Emre Kiziltug ₅ , Eyiyemisi C. Damisah ₅ , Carol Nelson-Williams ₆ , Guangya Zhu ₇ , Wenna Kong ₇ , August Yue Huang _{2,

3,

8} , Edward Stronge _{2,

9} , H. Westley Phillips _{2,

3,

10} , Brian H. Chhouk ₂ , Sara Bizzotto ₁₁ , Ming Hui Chen ₂ , Thiuni N. Adikari ₁₂ , Zimeng Ye ₁₂ , Tom Witkowski ₁₂ , Dulcie Lai ₁₃ , Nadine Lee ₂ , Julie Lokan ₁₄ , Ingrid E. Scheffer _{12,

15,

16,

17,

18} , Samuel F. Berkovic _{12,

18} , Shozeb Haider ₁₉ , Michael S. Hildebrand _{12,

15} , Edward Yang ₂₀ , Murat Gunel ₅ , Richard P. Lifton _{6,

21} , R. Mark Richardson ₂₂ , Ingmar Blümcke _{23,

24} , Sanda Alexandrescu ₂₅ , Anita Huttner ₂₆ , Erin L. Heinzen _{13,

27} , Jidong Zhu ₇ , Annapurna Poduri ₂₈ , Nihal DeLanerolle ₅ , Dennis D. Spencer ₅ , Eunjung Alice Lee _{2,

3,

8} , Christopher A. Walsh _{2,

3,

29,

30,

31} , Kristopher T. Kahle _{2,

3,

21,

32}

Affiliation

Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts
Broad Institute of MIT and Harvard, Cambridge, Massachusetts
Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts
Harvard Medical School, Boston, Massachusetts
Department of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles
Sorbonne University, Paris Brain Institute (ICM), National Institute of Health and Medical Research (INSERM), National Center for Scientific Research (CNRS), Paris, France
Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia
Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill
Department of Anatomical Pathology, Austin Health, Heidelberg, Australia
Murdoch Children’s Research Institute, Parkville, Australia
Florey Institute of Neuroscience and Mental Health, Heidelberg, Australia
Department of Pediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Australia
Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Australia
Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, United Kingdom
Department of Radiology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York
Department of Neurosurgery, Massachusetts General Hospital, Boston
Department of Neuropathology, University Hospitals Erlangen, Erlangen, Germany
Epilepsy Center, Cleveland Clinic, Cleveland, Ohio
Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut
Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill
Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
Department of Neurology and Pediatrics, Harvard Medical School, Boston, Massachusetts
Allen Discovery Center for Human Brain Evolution, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
Howard Hughes Medical Institute, Boston, Massachusetts
Department of Neurosurgery, Boston Children’s Hospital, Boston, Massachusetts

Mesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy subtype and is often refractory to antiseizure medications. While most patients with MTLE do not have pathogenic germline genetic variants, the contribution of postzygotic (ie, somatic) variants in the brain is unknown.

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