A. Hernández-Fabián

A novel de novo DNM1L mutation linked to mitochondrial fission dysfunction in a pediatric patient with epileptic encephalopathy and refractory seizures

Mitochondrial dynamics are essential for neuronal function, with dynamin-related protein 1 (DRP1), encoded by the DNM1L gene, playing a key role in mitochondrial fission. Pathogenic variants in DNM1L are associated with a spectrum of severe neurodevelopmental and neurodegenerative disorders. This study aime...