CURE Epilepsy Award

Convergence of High Frequency Oscillations with Genetic and Epigenetic Profiles in Epileptic Networks: Towards Novel Diagnostics in Focal Epilepsies

Gemma Carvill, PhD - Collaborators: Elizabeth Gerard, MD (Northwestern University) - Alica Goldman,, MD, PhD (Baylor College of Medicine) - Nuri Ince, PhD (Mayo Clinic)
Northwestern University

Genetic testing for a type of epilepsy called Focal Cortical Dysplasia (FCD) using blood-derived DNA does not lead to a diagnosis in over 80% of cases, as most pathogenic mutations are localized in brain tissue. However, obtaining brain tissue to identify the genetic cause is not always possible because not all people with focal epilepsies undergo surgery. Understanding the genetics of the underlying epilepsy remains an unmet clinical need. Dr. Carvill’s team will determine if residual biological material on depth electrodes used during evaluation of patients for potential surgery can be used to study epilepsy. They will test whether the DNA from the tiny number of cells that are left on the electrodes can be used to detect genetic changes specific to the parts of the brain that cause seizures. Simultaneously, they will perform AI-guided analysis of the electrical changes recorded from these electrodes to find biomarkers of seizures. The goal is to use these two measures to change how patients are evaluated for surgery and make surgery more effective.