SYNGAP1-Related Developmental and Epileptic Encephalopathy: Mechanisms, Symptoms, Diagnosis, and Emerging Therapies
SYNGAP1-related developmental and epileptic encephalopathy (also termed SYNGAP1-related disorder) is a genetic neurodevelopmental condition caused by pathogenic variants in the SYNGAP1 gene. SYNGAP1 encodes SynGAP, a synaptic Ras/Rap GTPase-activating protein that helps regulate excitatory signaling at glutamatergic synapses, particularly through pathways downstream of NMDA receptor activity. Disruption of SynGAP shifts the balance of synaptic strength… Read More »