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Article

Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.

Nature neuroscience - 1 May 2025

Baldassari Sara, Klingler Esther, Teijeiro Lucia Gomez, Doladilhe Marion, Raoux Corentin, Roig-Puiggros Sergi, Bizzotto Sara, Couturier Jeanne, Gilbert Alice, Sami Lina, Ribierre Théo, Aronica Eleonora, Adle-Biassette Homa, Chipaux Mathilde, Jabaudon Denis, Baulac Stéphanie

Abstract excerpt

Focal cortical dysplasia type II (FCDII) is a cortical malformation causing refractory epilepsy. FCDII arises from developmental somatic activating mutations in mTOR pathway genes, leading to focal cortical dyslamination and abnormal cytomegalic cells. Which cell types carry pathogenic mutations and how they affect cell-type-specific transcriptional programs remain unknown. In the present study, we combined...

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Identifiers

PMID: 40307383
DOI: 10.1038/s41593-025-01936-z
PMCID: PMC12081288

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