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

Primary Objectives:

• To identify if somatic mosaicism for mTOR is present in resected tissue from patients with FCDIIA/B, and can be detected in DNA from patient's serum as circulating free DNA (cfDNA) or from nasal epithelial cells collected non-invasively by olfactory mucosal brush swab.
• To establish if single cell expression profiling from resected fresh frozen tissue reveals novel FCD causing pathways and single cell RNA sequencing increases the yield of mTOR pathway variant detection.
• To determine if phosphorylated upstream and downstream mTOR pathway components can be characterised by immunohistochemistry and Western blot as novel biomarkers of mTOR activation in human FCDII tissue.

Secondary Objectives:

To engage with patients, representatives and charitable organisations to assess feasibility and develop plan to set up a future trial of mTOR inhibitor treatment.

Epilepsy in Focal Cortical Dysplasia Type IIA/B

Key Inclusion Criteria:

• Adult and Paediatric Patients (male and female)
• A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery.
• Able to attend appointment/hospital and undergo sampling of serum and nasal swab
• Informed Consent Available

Key Exclusion Criteria:

• Any acute or chronic conditions that could limit the ability of the patient to participate in the study.
• Refusal to give informed consent.