Article

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

2026-07-20

Abstract excerpt

<title>Abstract</title> <p> Background Mitochondrial dynamics are essential for neuronal function, with dynamin-related protein 1 (DRP1), encoded by the <italic>DNM1L</italic> gene, playing a key role in mitochondrial fission. Pathogenic variants in <italic>DNM1L</italic> are associated with a spectrum of severe neurodevelopmental and neurodegenerative disorders. This study aimed to characterize the clinica...

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Literature Corpus work: 0c48cf42-28a6-51d1-9312-b02818ebb877
DOI: 10.21203/rs.3.rs-10199543/v1

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