Our Research

Using focal cortical dysplasia as a natural model of focal epilepsy

The FCD spectrum allows for a unique model with which to explore the networks that mediate epilepsy disease, as well as comorbidity expression. The lesion is the known seizure onset zone, and using advanced connectivity analyses of resting state functional MRI, we seek to define and relate abnormal connectivity signatures to the real-world seizures and problems that our patients encounter. With this knowledge, the hope is that we can develop network neuromarkers that can help enhance precision diagnosis. We hope to use this information to develop methods to better diagnose, track and potentially treat the comorbidities common to the epilepsies. These data may also help to guide individually predictive, network-informed models to predict those patients who may benefit from resective surgery, or if not, to develop precision diagnostics to guide neuromodulation. This work is supported by NIH/NINDS K23 (PI: Nathan T. Cohen, MD), and through a large, international functional imaging collaboration EpiWheel (PI: Leigh N. Sepeta, PhD).

To understand comprehensively the FCD spectrum

Even as the most common cause of surgically-treatable epilepsy, there are numerous facets of FCD that remain unknown. FCD is also the most common cause of imaging-negative epilepsy. There have been numerous genetic etiologies associated with FCD. Knowledge about genetics remains limited as many of these genetic variants can only be detected in limited affected cells in the brain requiring tissue for diagnosis. As a high-volume epilepsy surgical center with advanced epilepsy genetic testing capabilities, we are working to define genetic abnormalities and their relationship to disease expression in FCD. We hope to integrate genetics with multimodal data to explore mechanisms of epileptogenesis in FCD-related epilepsy.

Translating findings to help patients

As part of our international collaborative research efforts, we have helped to design cutting-edge diagnostics for FCD-related (and other) epilepsies. As there remain frequent cases of imaging-negative epilepsy often caused by FCD, we are working to employ these research tools to improve patient care at Children’s National Hospital (and beyond). Similarly, given our extensive expertise in the surgical management of pediatric epilepsy, we collaborate locally, nationally and internationally with the goal of improving outcomes for all.