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Title: De novo NSF mutations cause early infantile epileptic encephalopathy
Authors: Suzuki, Hisato
Yoshida, Takeshi  kyouindb  KAKEN_id  orcid (unconfirmed)
Morisada, Naoya
Uehara, Tomoko
Kosaki, Kenjiro
Sato, Katsunori
Matsubara, Kohei
Takano‐Shimizu, Toshiyuki
Takenouchi, Toshiki
Author's alias: 吉田, 健司
Issue Date: Nov-2019
Publisher: Wiley
Journal title: Annals of Clinical and Translational Neurology
Volume: 6
Issue: 11
Start page: 2334
End page: 2339
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.
Rights: © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
DOI(Published Version): 10.1002/acn3.50917
PubMed ID: 31675180
Appears in Collections:Journal Articles

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