Brainstem DEPDC5 deletion: Implications for breathing, seizures, and SUDEP in DEPDC5-linked epilepsy
Epilepsy, affecting over 70 million individuals worldwide, poses a significant risk of sudden death, known as SUDEP. The DEPDC5 gene is a common factor in familial focal epilepsy, with or without cortical malformations, and its pathogenic variants increase the susceptibility to SUDEP. This study aims to gain a mechanistic understanding of DEPDC5-related epilepsy and SUDEP, identify biomarkers for high-risk patients, and develop preventive interventions.Methods involved the targeted deletion of Depdc5 in nucleus tractus solitarius (NTS) neurons in the mouse brainstem, followed by the administra