10X snRNA-seq data from human FCDII postoperative brain tissues with mTOR pathway mutations

Focal cortical dysplasia type II (FCDII) is linked to mTOR pathway mutations and drug-resistant epilepsy. Using 10X snRNA-seq on postoperative FCDII brain tissues, we characterized transcriptional alterations across cell types, revealing mTOR-related dysregulation. These findings provide insights into FCDII pathology and potential therapeutic target

Type: Transcriptome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001403	This dataset contains 10x Genomics single-nucleus RNA sequencing data from postoperative brain tissues of patients with focal cortical dysplasia type II (FCD II). The samples were processed using the Chromium platform.	Illumina HiSeq 2500 Illumina NovaSeq 6000	10

Publications	Citations
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia. Baldassari S, Klingler E, Teijeiro LG, Doladilhe M, Raoux C, Roig-Puiggros S, Bizzotto S, Couturier J, Gilbert A, Sami L, Ribierre T, Aronica E, Adle-Biassette H, Chipaux M, Jabaudon D, Baulac S. Nat Neurosci 28: 2025 964-972	13