Review
Open access
Sep 2026
A De Novo Gain-of-Function Variant of DNM1L Causes Developmental Encephalopathy.
BACKGROUND Variants in the dynamin 1-like (DNM1L) gene, which encodes dynamin-related protein 1 (Drp1), can cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) and optic atrophy 5 (OPA5), two neurodevelopmental disorders with distinct symptoms. Given the critical role of Drp1 in mitoch...
Shang-Sheng Dong, Yan-Juan Chen, Meng-Fang Yan et al.
· European Journal of Medical... · 0 citations