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Article

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

American journal of medical genetics. Part A - 1 Aug 2016

Fahrner Jill A, Liu Raymond, Perry Michael Scott, Klein Jessica, Chan David C

Abstract excerpt

DNM1L encodes dynamin-related protein 1 (DRP1/DLP1), a key component of the mitochondrial fission machinery that is essential for proper functioning of the mammalian brain. Previously reported probands with de novo missense mutations in DNM1L presented in the first year of life with severe encephalopathy and refractory epilepsy, with several dying within the first several weeks after birth. In contrast, we report...

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Identifiers

PMID: 27145208
DOI: 10.1002/ajmg.a.37721
PMCID: PMC5100740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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