Article

Reversal of cell, circuit and seizure phenotypes in a mouse model of <i>DNM1</i> epileptic encephalopathy

2023-04-14

Abstract excerpt

Pathogenic heterozygous missense mutations in the DNM1 gene result in a novel form of epileptic encephalopathy. DNM1 encodes for the large GTPase dynamin-1, an enzyme with an obligatory role in the endocytosis of synaptic vesicles (SVs) at mammalian nerve terminals. Pathogenic DNM1 mutations cluster within regions required for its essential GTPase activity, implicating disruption of this enzyme activity as bein...

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Literature Corpus work: f6a7ac40-7153-50ff-a354-e9967f1d62d0
DOI: 10.1101/2023.04.14.536870

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