机构：[1]Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA[2]Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA[3]International Center for Epilepsy Surgery, Hospital HMG, México City, Mexico[4]Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), University of Campinas –UNICAMP,Campinas, Sao Paulo, Brazil[5]Department of Neurology, University of Campinas –UNICAMP,Campinas, Sao Paulo, Brazil[6]Department of Translational Medicine, University of Campinas –UNICAMP,Campinas, Sao Paulo, Brazil[7]Department of Clinical Neurosciences, School of Medicine, Pontificia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Brazil[8]Porto Alegre Epilepsy Surgery Program, Hospital S鉶 Lucas PUCRS, Porto Alegre, Brazil[9]Department of Surgery, School of Medicine, Pontificia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Brazil[10]Department of Paediatrics, Department of Pathology (Neuropathology) and Department of Clinical Neurosciences, University of Calgary Faculty ofMedicine, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada[11]Division of Genetics and Genomics and Howard Hughes Medical Institute, Department of Pediatrics, Boston Children's Hospital, Boston,Massachusetts, USA[12]Departments of Pediatrics and Neurology, Harvard Medical School, Boston, Massachusetts, USA[13]Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada[14]Department of (Neuro) Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands[15]Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands[16]Sorbonne Université, Institut du Cerveau -ParisBrain Institute -ICM,Inserm, CNRS, APHP, H魀ital de la Pitié Salpêtrière, Paris, France[17]Department of Neuropathology, Universit鋞sklinikum Erlangen, Erlangen, Germany[18]Developmental Neurosciences Programme, UCL NIHR BRC Great Ormond Street Institute of Child Health and Great Ormond Street Hospital forChildren NHS Foundation Trust, London, UK[19]Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy[20]Center for Pediatric Neurology, Neurorehabilitation and Epileptology, Schoen-Clinic,Vogtareuth, Germany[21]Department of Neurosurgery, Allgemeines Krankenhaus Wien, Vienna Medical University, Wien, Austria[22]Department of Neuropathology, Institute of Neurology, University College London, UK[23]Epigenetics in Human Health and Disease Laboratory, Central Clinical School, Monash University, Melbourne, Victoria, Australia[24]Graduate School of Medical Science and Engineering, KAIST and SoVarGen, Daejeon, South Korea[25]Department of Neuropathology, Research Institute for Brain and Blood Vessels, Akita Cerebrospinal and Cardiovascular Center, Akita, Japan[26]Neuroscience Department, Children's Hospital Anna Meyer-Universityof Florence, Florence, Italy[27]National Center for Neurological Disorders, Department of Pathology, Xuanwu Hospital, Capital Medical University, and Clinical Research Centerfor Epilepsy, Capital Medical University, Beijing, China医技科室病理科首都医科大学宣武医院[28]Department of Neurology, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous research and consensus agreement to improve disease definition and classification. An International League Against Epilepsy (ILAE) Task Force (TF) reviewed the FCD classification of 2011 to identify existing gaps and provide a timely update. The following methodology was applied to achieve this goal: a survey of published literature indexed with ((Focal Cortical Dysplasia) AND (epilepsy)) between 01/01/2012 and 06/30/2021 (n = 1349) in PubMed identified the knowledge gained since 2012 and new developments in the field. An online survey consulted the ILAE community about the current use of the FCD classification scheme with 367 people answering. The TF performed an iterative clinico-pathological and genetic agreement study to objectively measure the diagnostic gap in blood/brain samples from 22 patients suspicious for FCD and submitted to epilepsy surgery. The literature confirmed new molecular-genetic characterizations involving the mechanistic Target Of Rapamycin (mTOR) pathway in FCD type II (FCDII), and SLC35A2 in mild malformations of cortical development (mMCDs) with oligodendroglial hyperplasia (MOGHE). The electro-clinical-imaging phenotypes and surgical outcomes were better defined and validated for FCDII. Little new information was acquired on clinical, histopathological, or genetic characteristics of FCD type I (FCDI) and FCD type III (FCDIII). The survey identified mMCDs, FCDI, and genetic characterization as fields for improvement in an updated classification. Our iterative clinico-pathological and genetic agreement study confirmed the importance of immunohistochemical staining, neuroimaging, and genetic tests to improve the diagnostic yield. The TF proposes to include mMCDs, MOGHE, and "no definite FCD on histopathology" as new categories in the updated FCD classification. The histopathological classification can be further augmented by advanced neuroimaging and genetic studies to comprehensively diagnose FCD subtypes; these different levels should then be integrated into a multi-layered diagnostic scheme. This update may help to foster multidisciplinary efforts toward a better understanding of FCD and the development of novel targeted treatment options.
基金：
National Institute of Neurological Disorders and Stroke (NINDS) [1R01NS117544-01]
第一作者机构：[1]Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA[*1]Charles Shor Epilepsy Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195 USA.
通讯作者：
通讯机构：[1]Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA[*1]Charles Shor Epilepsy Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195 USA.
推荐引用方式(GB/T 7714)：
Imad Najm,Dennis Lal,Mario Alonso Vanegas,et al.The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission[J].EPILEPSIA.2022,63(8):1899-1919.doi:10.1111/epi.17301.
APA：
Imad Najm,Dennis Lal,Mario Alonso Vanegas,Fernando Cendes,Iscia Lopes-Cendes...&Ingmar Blümcke.(2022).The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.EPILEPSIA,63,(8)
MLA：
Imad Najm,et al."The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission".EPILEPSIA 63..8(2022):1899-1919
医学