Open access
Jul 2026
Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility
The AMG pathway is established as a mechanistic framework for identifying digenic etiologies in epilepsy and highlight potential therapeutic targets after it was demonstrated that reduced actin polymerization promoted DRP1-mediated mitochondrial fission, increased ROS levels, and enhanced glutamatergic transmission, le...
Shenzhao Lu, Mengqi Ma, Shabab B. Hannan et al.
· Journal of Clinical Investig... · 0 citations