Increased activation of the WNT pathway in brain tissue from patients with cortical dysplasia type IIb.

ABSTRACT: Focal cortical dysplasia (FCD) is a malformation of cortical development characterized by a heterogeneous group of lesions with high epileptogenic activity. Somatic mutations in the mTOR pathway are the primary cause of cortical malformations (MCDs). Activation of the WNT pathway inhibits GSK3, which is a key inhibitor of mTOR; consequently, WNT activation is associated with increased activation of the mTOR pathway. Residual samples were obtained from the neocortex of five patients diagnosed with FCD type IIb who underwent surgery. For the control group, residual samples from the neocortex of 3 patients with temporal lobe epilepsy associated with hippocampal sclerosis (TLE-HS) were used. The samples were used to evaluate relative gene expression levels, immunohistochemical characteristics,

SUBMITTER: Varella FJ 

PROVIDER: S-EPMC11889187 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature