Article

Patient mutations in DRP1 perturb synaptic maturation of cortical neurons

2024-08-25

Abstract excerpt

With the advent of exome sequencing, a growing number of children are being identified with de novo loss of function mutations in the dynamin 1 like ( DNM1L) gene encoding the large GTPase essential for mitochondrial fission, dynamin-related protein 1 (DRP1); these mutations result in severe neurodevelopmental phenotypes, such as developmental delay, optic atrophy, and epileptic encephalopathies. Though it is es...

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Literature Corpus work: d1936f81-b095-5688-aacf-2cfa3e7673f1
DOI: 10.1101/2024.08.23.609462

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