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Epilepsy Behav ; 150: 109565, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38070410

ABSTRACT

Focal cortical dysplasia (FCD) is a cortical malformation in brain development and is considered as one of the major causes of drug-resistant epilepsiesin children and adults. The pathogenesis of FCD is yet to be fully understood. Imaging markers such as MRI are currently the surgeons major obstacle due to the difficulty in delimiting the precise dysplasic area and a mosaic brain where there is epileptogenic tissue invisible to MRI. Also increased gene expression and activity may be responsible for the alterations in cell proliferation, migration, growth, and survival. Altered expressions were found, particularly in the PI3K/AKT/mTOR pathway. Surgery is still considered the most effective treatment option, due to drug-resistance, and up to 60 % of patients experience complete seizure control, varying according to the type and location of FCD. Both genetic and epigenetic factors may be involved in the pathogenesis of FCD, and there is no conclusive evidence whether these alterations are inherited or have an environmental origin.


Subject(s)
Focal Cortical Dysplasia , Malformations of Cortical Development , Adult , Child , Humans , Phosphatidylinositol 3-Kinases , Brain/pathology , Seizures/pathology , Treatment Outcome , Magnetic Resonance Imaging/methods , Biomarkers , Malformations of Cortical Development/diagnostic imaging , Malformations of Cortical Development/genetics , Malformations of Cortical Development/pathology , Retrospective Studies
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