Functional And Clinical Evaluation Of NMDA Receptor Mutations In Epileptic Encephalopathy
Dr. Traynelis’ group will test whether FDA-approved drugs that block NMDA receptors (NMDARs) reduce the seizure burden in children with overactive NMDARs due to GRIN mutations. They will evaluate the effect of NMDAR mutations on receptor function and the sensitivity in vitro to candidate drugs (such as memantine), which will inform the use of these agents in patients. They will monitor seizure type and frequency, EEG, and developmental assessment before and after off-label treatment with FDA-approved NMDAR inhibitors. The project has the potential to impact the lives of patients whose seizures are refractory to current therapies by providing personalized, targeted therapy.