|Title:||De novo NSF mutations cause early infantile epileptic encephalopathy|
Yoshida, Takeshi https://orcid.org/0000-0003-0992-064X (unconfirmed)
|Author's alias:||吉田, 健司|
|Journal title:||Annals of Clinical and Translational Neurology|
|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.|
|Appears in Collections:||Journal Articles |
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