Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia.

ABSTRACT: Malformations of cortical development are manifestations of mTORopathies, including tubers in context of Tuberous Sclerosis Complex (TSC) cortical tubers and Focal Cortical Dysplasia (FCD), and are associated with epilepsy, often accompanied by comorbidities such as autism spectrum disorder (ASD). This study aims to investigate the cell-type-specific transcriptional alterations and disrupted intercellular communication networks in mTORopathies, focusing on their implications for cortical network dysfunction. Using single-cell RNA sequencing, we identified 33 transcriptionally distinct cell clusters across control and pathological samples, including neuronal, glial, and endothelial populations. Our analysis revealed disease-specific changes, such as the loss of certain glutamatergic and mic

SUBMITTER: Scheper M 

PROVIDER: S-EPMC12462383 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature