ArticleAnnals of clinical and translational neurology2019
De novo NSF mutations cause early infantile epileptic encephalopathy.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
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- Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.Human molecular genetics · 2023Article
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Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
N-ethylmaleimide-sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset. When expressed in the developing eye of Drosophila, the mutant NSF severely affected eye development, while the wild-type allele had no detectable effect under the same conditions. Our findings suggest that the two pathogenic variants exert a dominant negative effect. De novo heterozygous mutations in the NSF gene cause early infantile epileptic encephalopathy.
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Registered trials
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