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

Blumcke, I; Cendes, F; Miyata, H; Thom, M; Aronica, E; Najm, I; (2021) Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia. Brain Pathology , 31 (4) , Article e12956. 10.1111/bpa.12956. Green open access

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Abstract

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.

Type: Article
Title: Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/bpa.12956
Publisher version: http://dx.doi.org/10.1111/bpa.12956
Language: English
Additional information: © 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: brain, epilepsy, neuroimaging, neuropathology, seizure
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
URI: https://discovery.ucl.ac.uk/id/eprint/10130751
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