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Transcriptomic and morphologic vascular aberrations underlying FCDIIb etiology

8 Apr 2025

Abstract excerpt

Focal cortical dysplasia type II (FCDII) is a major cause of drug-resistant epilepsy, but genetic factors explain only some cases, suggesting other mechanisms. In this study, we conduct a molecular analysis of brain lesions and adjacent areas in FCDIIb patients. By analyzing over 217,506 single-nucleus transcriptional profiles from 15 individuals, we find significant changes in smooth muscle cells (SMCs) and...

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PMID: 40199880
DOI: 10.1038/s41467-025-58535-6

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