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Article

Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.

Neurobiology of disease - 1 Nov 2016

Asinof Samuel, Mahaffey Connie, Beyer Barbara, Frankel Wayne N, Boumil Rebecca

Abstract excerpt

Dynamin 1 is a large neuron-specific GTPase involved in the endocytosis and recycling of pre-synaptic membranes and synaptic vesicles. Mutations in the gene encoding dynamin 1 (DNM1) underlie two epileptic encephalopathy syndromes, Lennox-Gastaut Syndrome and Infantile Spasms. Mice homozygous for the Dnm1 "fitful" mutation, a non-synonymous coding variant in an alternatively spliced exon of Dnm1 (exon 10a;...

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Source

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Identifiers

PMID: 27363778
DOI: 10.1016/j.nbd.2016.06.014
PMCID: PMC5010951

Genes

DNM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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