Ontology highlight
ABSTRACT:
SUBMITTER: Wei Y
PROVIDER: S-EPMC7952519 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Frontiers in pediatrics 20210226
<i>DNM1L</i> encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several <i>de novo</i> heterozygous missense mutations in <i>DNM1L</i> have been reported, which were characterized by devastating courses with refractory epilepsy, myoclonus, and brain atrophy on MRI. We describe a 4.5-year-old male child harboring a novel <i>de novo</i> mutation in <i>DNM1L</i> presenting a phenotype of de ...[more]