Determining causes and improving diagnostics of epilepsy with focal cortical dysplasia

This research will identify novel mutations/pathways leading to FCD, novel methods to test for mTOR mutations and develop new screening tools by performing a simple blood test or nasal swab.  It will quickly answer if mTOR inhibitor treatment results in a useful seizure frequency reduction in drug-resistant patients.
Dr Laura Mantoan Ritter

BACKGROUND

Focal cortical dysplasia (FCD) is a malformation of brain development and a common cause of drug-resistant epilepsy that is often caused by mutations in specific pathway genes called mTOR.

THE STUDY

This study will look at FCD tissue removed during epilepsy surgery and aims to detect mTOR mutations in brain cells. The team will then establish whether the brain cell mutations can be detected in the blood.

Using this information, the team will investigate whether patients with FCD and refractory epilepsy will have fewer seizures when treated with a novel drug that targets mTOR. Dr Mantoan Ritter and colleagues will work with a board of patient representatives who will help design the trial.

SIGNIFICANCE

The study aims to find new causes of epilepsy with FCD, the development of new diagnostic tools and the potential to identify new treatments. Results from this study will pave the way for future clinical research for people with refractory focal epilepsy.