Increased expression of Fragile X mental retardation protein in malformative lesions of patients with focal cortical dysplasia.

ABSTRACT:

Objective

Focal cortical dysplasia (FCD) accounts for nearly half of all cases of medically refractory epilepsy in the pediatric and adult patient populations. This neurological disorder stems from localized malformations in cortical brain tissue due to impaired neuronal proliferation, differentiation, and migration patterns. Recent studies in animal models have highlighted the potential role of the Fragile X mental retardation protein (FMRP) levels in FCD. The purpose of this study was to investigate the status of FMRP activation in cortical brain tissues surgically resected from patients with FCD. In parallel, this study also investigated protein levels within the PI3K/AKT/mTOR and canonical Wnt signaling pathways.

Methods

Pathologic tissue from malformative lesions of FCD

SUBMITTER: Reynolds CD 

PROVIDER: S-EPMC9621172 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature