ArticleScientific reports2023
Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Molecular Signature in Focal Cortical Dysplasia: A Systematic Review of RNA and Protein Data.International journal of molecular sciences · 2025Pooled it
- Alpha-B-crystallin immunohistochemistry: A sensitive but non-specific marker for epileptogenic lesions.Brain pathology (Zurich, Switzerland) · 2026Article
- aDISCO: A clearing method to enable 3D microscopy of large archival paraffin-embedded human tissue blocks.Science advances · 2026Article
- Beyond structural MRI: combined diffusion metric improve delineation of epileptogenic tissue in focal cortical dysplasia.Scientific reports · 2026Article
- Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks.Epilepsia · 2026Article
- Integrated Multi-Omics Profiling Identifies CD84-Associated Microglial Alterations in Focal Cortical Dysplasia Type II.Journal of inflammation research · 2026Article
- Article
- Approaching the holistic transcriptome-convolution and deconvolution in transcriptomics.Briefings in bioinformatics · 2025Review
- Transcriptomic and morphologic vascular aberrations underlying FCDIIb etiology.Nature communications · 2025Article
- Architecture and cellular composition of focal cortical dysplasia type II: qualitative review of histological studies.Frontiers in cellular neuroscience · 2025Review
- Multimodal single-cell profiling reveals neuronal vulnerability and pathological cell states in focal cortical dysplasia.iScience · 2024Article
- Focal cortical dysplasia (type II) detection with multi-modal MRI and a deep-learning framework.Npj imaging · 2024Article
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Authors and funding
14 authors.
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Abstract
Focal cortical dysplasia (FCD) is a brain malformation that causes medically refractory epilepsy. FCD is classified into three categories based on structural and cellular abnormalities, with FCD type II being the most common and characterized by disrupted organization of the cortex and abnormal neuronal development. In this study, we employed cell-type deconvolution and single-cell signatures to analyze bulk RNA-seq from multiple transcriptomic studies, aiming to characterize the cellular composition of brain lesions in patients with FCD IIa and IIb subtypes. Our deconvolution analyses revealed specific cellular changes in FCD IIb, including neuronal loss and an increase in reactive astrocytes (astrogliosis) when compared to FCD IIa. Astrogliosis in FCD IIb was further supported by a gene signature analysis and histologically confirmed by glial fibrillary acidic protein (GFAP) immunostaining. Overall, our findings demonstrate that FCD II subtypes exhibit differential neuronal and glial compositions, with astrogliosis emerging as a hallmark of FCD IIb. These observations, validated in independent patient cohorts and confirmed using immunohistochemistry, offer novel insights into the involvement of glial cells in FCD type II pathophysiology and may contribute to the development of targeted therapies for this condition.
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