Cargando…

Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia

Focal Cortical Dysplasia (FCD) is the most common cause of drug‐resistant focal epilepsy in children and young adults. The diagnosis of currently defined FCD subtypes relies on a histopathological assessment of surgical brain tissue. The many ongoing challenges in the diagnosis of FCD and their vari...

Descripción completa

Detalles Bibliográficos
Autores principales: Blumcke, Ingmar, Cendes, Fernando, Miyata, Hajime, Thom, Maria, Aronica, Eleonora, Najm, Imad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412090/
https://www.ncbi.nlm.nih.gov/pubmed/34196989
http://dx.doi.org/10.1111/bpa.12956
_version_ 1783747389355458560
author Blumcke, Ingmar
Cendes, Fernando
Miyata, Hajime
Thom, Maria
Aronica, Eleonora
Najm, Imad
author_facet Blumcke, Ingmar
Cendes, Fernando
Miyata, Hajime
Thom, Maria
Aronica, Eleonora
Najm, Imad
author_sort Blumcke, Ingmar
collection PubMed
description Focal Cortical Dysplasia (FCD) is the most common cause of drug‐resistant focal epilepsy in children and young adults. The diagnosis of currently defined FCD subtypes relies on a histopathological assessment of surgical brain tissue. The many ongoing challenges in the diagnosis of FCD and their various subtypes mandate, however, continuous research and consensus agreement to develop a reliable classification scheme. Advanced neuroimaging and genetic studies have proven to augment the diagnosis of FCD subtypes and should be considered for an integrated clinico‐pathological and molecular classification. In this review, we will discuss the histopathological foundation of the current FCD classification and potential advancements when using genetic analysis of somatic brain mutations in neurosurgically resected brain specimens and postprocessing of presurgical neuroimaging data. Combining clinical, imaging, histopathology, and molecular studies will help to define the disease spectrum better and finally unveil FCD‐specific treatment options.
format Online
Article
Text
id pubmed-8412090
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-84120902021-09-03 Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia Blumcke, Ingmar Cendes, Fernando Miyata, Hajime Thom, Maria Aronica, Eleonora Najm, Imad Brain Pathol Mini‐symposium Focal Cortical Dysplasia (FCD) is the most common cause of drug‐resistant focal epilepsy in children and young adults. The diagnosis of currently defined FCD subtypes relies on a histopathological assessment of surgical brain tissue. The many ongoing challenges in the diagnosis of FCD and their various subtypes mandate, however, continuous research and consensus agreement to develop a reliable classification scheme. Advanced neuroimaging and genetic studies have proven to augment the diagnosis of FCD subtypes and should be considered for an integrated clinico‐pathological and molecular classification. In this review, we will discuss the histopathological foundation of the current FCD classification and potential advancements when using genetic analysis of somatic brain mutations in neurosurgically resected brain specimens and postprocessing of presurgical neuroimaging data. Combining clinical, imaging, histopathology, and molecular studies will help to define the disease spectrum better and finally unveil FCD‐specific treatment options. John Wiley and Sons Inc. 2021-07-01 /pmc/articles/PMC8412090/ /pubmed/34196989 http://dx.doi.org/10.1111/bpa.12956 Text en © 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Mini‐symposium
Blumcke, Ingmar
Cendes, Fernando
Miyata, Hajime
Thom, Maria
Aronica, Eleonora
Najm, Imad
Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title_full Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title_fullStr Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title_full_unstemmed Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title_short Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
title_sort toward a refined genotype–phenotype classification scheme for the international consensus classification of focal cortical dysplasia
topic Mini‐symposium
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412090/
https://www.ncbi.nlm.nih.gov/pubmed/34196989
http://dx.doi.org/10.1111/bpa.12956
work_keys_str_mv AT blumckeingmar towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia
AT cendesfernando towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia
AT miyatahajime towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia
AT thommaria towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia
AT aronicaeleonora towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia
AT najmimad towardarefinedgenotypephenotypeclassificationschemefortheinternationalconsensusclassificationoffocalcorticaldysplasia