Open access
Jun 2026
DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons.
Findings strongly suggest that altered mitochondrial morphology in DRP1 mutant neurons leads to pathogenic dysregulation of synaptic development and activity.
T. Baum, J. Costanzo, C. Bodnya et al.
· Journal of Neurodevelopmenta... · 0 citations