ArticleBrain pathology (Zurich, Switzerland)2021
Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia.
Article in Brain pathology (Zurich, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 35 citations in OpenAlex.
- The Mechanism Underlying the Abnormal Expression of α-Synuclein in the Cortical Lesions of Patients With FCD Type IIb and TSC.CNS neuroscience & therapeutics · 2026Article
- Review
- Spatial transcriptomics in focal cortical dysplasia type IIb.Acta neuropathologica communications · 2024Article
- Updates from the International League Against Epilepsy Classification of Epilepsy (2017) and Focal Cortical Dysplasias (2022): Imaging Phenotype and Genetic Characterization.AJNR. American journal of neuroradiology · 2024Review
- Lesion volume and spike frequency on EEG impact perfusion values in focal cortical dysplasia: a pediatric arterial spin labeling study.Scientific reports · 2024Article
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.Epilepsia open · 2024Article
- Diagnostic Accuracy of Epilepsy-dedicated MRI with Post-processing.Clinical neuroradiology · 2023Article
- Diffusion tensor imaging discriminates focal cortical dysplasia from normal brain parenchyma and differentiates between focal cortical dysplasia types.Insights into imaging · 2023Article
- Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: Insights into pathophysiology and tissue characterization.Frontiers in neurology · 2023Article
- Enhanced focal cortical dysplasia detection in pediatric frontal lobe epilepsy with asymmetric radiomic and morphological features.Frontiers in neuroscience · 2023Article
- Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain : a journal of neurology · 2022Article
- Article
- The metabolic basis of epilepsy.Nature reviews. Neurology · 2022Review
- MRI of focal cortical dysplasia.Neuroradiology · 2022Review
- Neuropathology and epilepsy surgery: 2022 update.Free neuropathology · 2022Article
- DNA methylation-based classification of malformations of cortical development in the human brain.Acta neuropathologica · 2022Article
- An introduction to the mini-symposium on "The Neuropathology of Focal Human Epilepsy".Brain pathology (Zurich, Switzerland) · 2021Article
- Article
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6 authors at 5 institutions in 6 countries.
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No grant is acknowledged in the PubMed record.
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.
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