Study of Genetic Changes in Brain and Blood Tissue from Patients with Focal Cortical Dysplasia Type IIAB Undergoing Epilepsy Surgery

What this Trial Is About

Focal cortical dysplasia FCD is a brain development malformation and a common cause of drug-resistant epilepsy, often linked to mutations in mTOR pathway genes. Researchers are studying tissue removed during epilepsy surgery from patients with FCD to detect these mutations. The study aims to discover new causes of epilepsy by identifying genetic changes and developing improved diagnostic and screening tools. The study involves genetic screening of DNA samples taken from blood, nasal swabs, and brain tissue of patients with confirmed or suspected FCDIIAB who undergo or have undergone epilepsy surgery. Researchers will also use single cell RNA sequencing to profile gene expression in brain cells and analyze mTOR pathway components as potential biomarkers. Additionally, the study plans to explore the feasibility of future trials involving mTOR inhibitor treatments. Participants will provide samples of blood and nasal swabs for genetic testing. Researchers will perform detailed analyses including single cell expression profiling and protein studies on the surgical brain tissue. The main outcomes measured over two years include detection of somatic mosaicism, single cell gene expression patterns, and phosphorylated mTOR pathway targets. The study is designed to improve understanding of FCD and support the development of new diagnostics and treatments.

Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)