Pediatric Epilepsy Genetics Clinic Research

Clinic researchers are part of an international community of scientists pinpointing genetic variations thought to play key roles in the development of epilepsy and identifying potential therapeutic targets specific to these changes. Our team has contributed to several studies involving patients with genetic epilepsies. Along with searching for gene-specific therapies, we have a special research interest in inflammation’s role of in the expression and severity of some genetic epilepsies.

Often when children get sick, seizures become more frequent and intense, which may be linked to the underlying inflammation associated with their illness. Quite commonly, patients with the same genetic mutations may have very different disease courses including varying degrees of seizure type and severity, developmental delay and cognitive impairment. We suspect that inflammation may intensify these issues in some patients with genetic epilepsy. We are working to identify parts of the immune system that may play a role in both inflammation and epilepsy in the hopes of finding new therapeutic and even preventative approaches to the disease.