Dissecting mTOR Pathway Mosaicism in FCDII-Harbouring Epileptic Brain and Peripheral Tissue.

303113_28022022

Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling),the investigators will attempt to identify new genetic targets in FCD. The main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.

2023-04-09

2025-04-08

2026-04-08

Recruiting

60

Epilepsy in Focal Cortical Dysplasia Type IIA/B Key Inclusion Criteria: 1. Adult and Paediatric Patients (male and female) 2. A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery. 3. Able to attend appointment/hospital and undergo sampling of serum and nasal swab 4. Informed Consent Available Key Exclusion Criteria: 5. Any acute or chronic conditions that could limit the ability of the patient to participate in the study. 6. Refusal to give informed consent.

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2023-09-26