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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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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 |
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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 |
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