PMID- 35706131
OWN - NLM
STAT- MEDLINE
DCOM- 20220811
LR  - 20230315
IS  - 1528-1167 (Electronic)
IS  - 0013-9580 (Print)
IS  - 0013-9580 (Linking)
VI  - 63
IP  - 8
DP  - 2022 Aug
TI  - The ILAE consensus classification of focal cortical dysplasia: An update proposed 
      by an ad hoc task force of the ILAE diagnostic methods commission.
PG  - 1899-1919
LID - 10.1111/epi.17301 [doi]
AB  - 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.
CI  - (c) 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of 
      International League Against Epilepsy.
FAU - Najm, Imad
AU  - Najm I
AUID- ORCID: 0000-0001-5192-2089
AD  - Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA.
FAU - Lal, Dennis
AU  - Lal D
AUID- ORCID: 0000-0002-5173-9636
AD  - Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA.
AD  - Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
FAU - Alonso Vanegas, Mario
AU  - Alonso Vanegas M
AUID- ORCID: 0000-0002-7327-7014
AD  - International Center for Epilepsy Surgery, Hospital HMG, Mexico City, Mexico.
FAU - Cendes, Fernando
AU  - Cendes F
AUID- ORCID: 0000-0001-9336-9568
AD  - Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), University of 
      Campinas - UNICAMP, Campinas, Sao Paulo, Brazil.
AD  - Department of Neurology, University of Campinas - UNICAMP, Campinas, Sao Paulo, 
      Brazil.
FAU - Lopes-Cendes, Iscia
AU  - Lopes-Cendes I
AUID- ORCID: 0000-0002-6221-6822
AD  - Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), University of 
      Campinas - UNICAMP, Campinas, Sao Paulo, Brazil.
AD  - Department of Translational Medicine, University of Campinas - UNICAMP, Campinas, 
      Sao Paulo, Brazil.
FAU - Palmini, Andre
AU  - Palmini A
AUID- ORCID: 0000-0002-4163-6924
AD  - Department of Clinical Neurosciences, School of Medicine, Pontificia Universidade 
      Catolica do Rio Grande do Sul (PUCRS), Porto Alegre, Brazil.
AD  - Porto Alegre Epilepsy Surgery Program, Hospital Sao Lucas PUCRS, Porto Alegre, 
      Brazil.
FAU - Paglioli, Eliseu
AU  - Paglioli E
AD  - Department of Surgery, School of Medicine, Pontificia Universidade Catolica do 
      Rio Grande do Sul (PUCRS), Porto Alegre, Brazil.
FAU - Sarnat, Harvey B
AU  - Sarnat HB
AD  - Department of Paediatrics, Department of Pathology (Neuropathology) and 
      Department of Clinical Neurosciences, University of Calgary Faculty of Medicine, 
      Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.
FAU - Walsh, Christopher A
AU  - Walsh CA
AUID- ORCID: 0000-0002-0156-2238
AD  - Division of Genetics and Genomics and Howard Hughes Medical Institute, Department 
      of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
AD  - Departments of Pediatrics and Neurology, Harvard Medical School, Boston, 
      Massachusetts, USA.
FAU - Wiebe, Samuel
AU  - Wiebe S
AUID- ORCID: 0000-0002-1061-9099
AD  - Department of Clinical Neurosciences, Cumming School of Medicine, University of 
      Calgary, Calgary, Alberta, Canada.
FAU - Aronica, Eleonora
AU  - Aronica E
AUID- ORCID: 0000-0002-3542-3770
AD  - Department of (Neuro) Pathology, Amsterdam UMC, University of Amsterdam, 
      Amsterdam, The Netherlands.
AD  - Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.
FAU - Baulac, Stephanie
AU  - Baulac S
AUID- ORCID: 0000-0001-6430-4693
AD  - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, 
      CNRS, APHP, Hopital de la Pitie Salpetriere, Paris, France.
FAU - Coras, Roland
AU  - Coras R
AD  - Department of Neuropathology, Universitatsklinikum Erlangen, Erlangen, Germany.
FAU - Kobow, Katja
AU  - Kobow K
AUID- ORCID: 0000-0002-0074-2480
AD  - Developmental Neurosciences Programme, UCL NIHR BRC Great Ormond Street Institute 
      of Child Health and Great Ormond Street Hospital for Children NHS Foundation 
      Trust, London, UK.
FAU - Cross, J Helen
AU  - Cross JH
AUID- ORCID: 0000-0001-7345-4829
AD  - Developmental Neurosciences Programme, UCL NIHR BRC Great Ormond Street Institute 
      of Child Health and Great Ormond Street Hospital for Children NHS Foundation 
      Trust, London, UK.
FAU - Garbelli, Rita
AU  - Garbelli R
AUID- ORCID: 0000-0002-6475-4974
AD  - Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
FAU - Holthausen, Hans
AU  - Holthausen H
AUID- ORCID: 0000-0001-9221-0109
AD  - Center for Pediatric Neurology, Neurorehabilitation and Epileptology, 
      Schoen-Clinic, Vogtareuth, Germany.
FAU - Rossler, Karl
AU  - Rossler K
AD  - Department of Neurosurgery, Allgemeines Krankenhaus Wien, Vienna Medical 
      University, Wien, Austria.
FAU - Thom, Maria
AU  - Thom M
AUID- ORCID: 0000-0001-7712-2629
AD  - Department of Neuropathology, Institute of Neurology, University College London, 
      UK.
FAU - El-Osta, Assam
AU  - El-Osta A
AUID- ORCID: 0000-0001-7968-7375
AD  - Epigenetics in Human Health and Disease Laboratory, Central Clinical School, 
      Monash University, Melbourne, Victoria, Australia.
FAU - Lee, Jeong Ho
AU  - Lee JH
AUID- ORCID: 0000-0002-2299-630X
AD  - Graduate School of Medical Science and Engineering, KAIST and SoVarGen, Daejeon, 
      South Korea.
FAU - Miyata, Hajime
AU  - Miyata H
AUID- ORCID: 0000-0003-2551-5978
AD  - Department of Neuropathology, Research Institute for Brain and Blood Vessels, 
      Akita Cerebrospinal and Cardiovascular Center, Akita, Japan.
FAU - Guerrini, Renzo
AU  - Guerrini R
AUID- ORCID: 0000-0002-7272-7079
AD  - Neuroscience Department, Children's Hospital Anna Meyer- University of Florence, 
      Florence, Italy.
FAU - Piao, Yue-Shan
AU  - Piao YS
AUID- ORCID: 0000-0001-6081-1129
AD  - National Center for Neurological Disorders, Department of Pathology, Xuanwu 
      Hospital, Capital Medical University, and Clinical Research Center for Epilepsy, 
      Capital Medical University, Beijing, China.
FAU - Zhou, Dong
AU  - Zhou D
AUID- ORCID: 0000-0001-7101-4125
AD  - Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
FAU - Blumcke, Ingmar
AU  - Blumcke I
AUID- ORCID: 0000-0001-8676-0788
AD  - Charles Shor Epilepsy Center, Neurological Institute, Cleveland, Ohio, USA.
AD  - Department of Neuropathology, Universitatsklinikum Erlangen, Erlangen, Germany.
LA  - eng
GR  - P50 HD105351/HD/NICHD NIH HHS/United States
GR  - R01 NS035129/NS/NINDS NIH HHS/United States
GR  - R01 NS117544/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20220615
PL  - United States
TA  - Epilepsia
JT  - Epilepsia
JID - 2983306R
SB  - IM
MH  - Consensus
MH  - *Epilepsy/diagnosis/pathology
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - *Malformations of Cortical Development/diagnostic imaging/genetics
MH  - *Malformations of Cortical Development, Group I/diagnosis
MH  - Neuroimaging
MH  - Retrospective Studies
PMC - PMC9545778
OTO - NOTNLM
OT  - brain
OT  - classification
OT  - epilepsy
OT  - focal cortical dysplasia
OT  - genes
OT  - seizure
COIS- Author JHL is a cofounder and chief technology officer (CTO) of SoVarGen, Inc., 
      which seeks to develop new diagnostics and therapeutics for brain disorders. 
      Author IN serves on an Advisory Board and Speakers Bureau of Eisai, Inc. The 
      remaining authors have no conflicts of interest. We confirm that we have read the 
      Journal's position on issues involved in ethical publication and affirm that this 
      report is consistent with those guidelines.
EDAT- 2022/06/17 06:00
MHDA- 2022/08/12 06:00
PMCR- 2022/10/07
CRDT- 2022/06/16 00:32
PHST- 2022/04/24 00:00 [revised]
PHST- 2022/02/01 00:00 [received]
PHST- 2022/05/13 00:00 [accepted]
PHST- 2022/06/17 06:00 [pubmed]
PHST- 2022/08/12 06:00 [medline]
PHST- 2022/06/16 00:32 [entrez]
PHST- 2022/10/07 00:00 [pmc-release]
AID - EPI17301 [pii]
AID - 10.1111/epi.17301 [doi]
PST - ppublish
SO  - Epilepsia. 2022 Aug;63(8):1899-1919. doi: 10.1111/epi.17301. Epub 2022 Jun 15.