Focal cortical dysplasia: Updates

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dc.contributor.authorPinheiro, Jen_US
dc.contributor.authorHonavar, M.en_US
dc.date.accessioned2023-08-10T07:32:35Z
dc.date.available2023-08-10T07:32:35Z
dc.date.issued2022-05
dc.description.abstractFocal cortical dysplasias (FCDs) represent the third most frequent cause of drug-resistant focal epilepsy in adults (after hippocampal sclerosis and tumours) submitted to surgery, and the most common in the pediatric age group. The International League Against Epilepsy (ILAE) classification of focal cortical dysplasia is still a reference and consists of a three-tiered system: FCD type I refers to isolated abnormalities in cortical layering; FCD type II refers to cases with abnormalities in cortical architecture and dysmorphic neurons with or without balloon cells; and FCD type III refers to abnormalities in cortical layering associated with other lesions. Recent studies have demonstrated that somatic mutations occurring post-zygotically during embryonal development and leading to mosaicism, underlie most brain malformations. The molecular pathogenesis of FCD type II is associated with activation of the mTOR pathway. Pathogenic variants in this pathway are recognized in up to 63% of cases and may occur both through single activating variants in activators of the mTOR signaling pathway or double-hit inactivating variants in repressors of the signaling pathway. The newly described mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy, has been found to show recurrent pathogenic variants in SLC35A2 with mosaicism. The present review describes the lesions of FCD and discusses the molecular pathogenesis and proposal for a revised classification.en_US
dc.identifier.affiliationsDepartment of Anatomic Pathology, Centro Hospitalar Universitário São João; Department of Pathology, Faculdade de Medicina da Universidade do Porto (FMUP), Alameda Prof. Hernâni Monteiro, Porto, Portugalen_US
dc.identifier.affiliationsDepartment of Anatomic Pathology, Centro Hospitalar Universitário São João, Porto; Department of Anatomic Pathology, Hospital Pedro Hispano, Matosinhos, Portugalen_US
dc.identifier.citationPinheiro J, Honavar M.. Focal cortical dysplasia: Updates. Indian Journal of Pathology & Microbiology. 2022 May; 65(1): 189-197en_US
dc.identifier.issn0377-4929
dc.identifier.issn0974-5130
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223280
dc.languageenen_US
dc.publisherWolters Kluwer - Medknowen_US
dc.relation.issuenumber1en_US
dc.relation.volume65en_US
dc.source.urihttps://doi.org/10.4103/ijpm.ijpm_1226_21en_US
dc.subjectEpilepsyen_US
dc.subjectfocal cortical dysplasiaen_US
dc.subjectgeneticsen_US
dc.subjectmalformations of cortical developmenten_US
dc.subjectneuropathologyen_US
dc.titleFocal cortical dysplasia: Updatesen_US
dc.typeJournal Articleen_US
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