De novo NSF mutations cause early infantile epileptic encephalopathy

Hisato Suzuki; Takeshi Yoshida; Naoya Morisada; Tomoko Uehara; Kenjiro Kosaki; Katsunori Sato; Kohei Matsubara; Toshiyuki Takano-Shimizu; Toshiki Takenouchi

doi:10.1002/acn3.50917

De novo NSF mutations cause early infantile epileptic encephalopathy

Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano-Shimizu, Toshiki Takenouchi

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2334-2339
Number of pages	6
Journal	Annals of Clinical and Translational Neurology
Volume	6
Issue number	11
DOIs	https://doi.org/10.1002/acn3.50917
Publication status	Published - 2019 Nov 1

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/acn3.50917

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title = "De novo NSF mutations cause early infantile epileptic encephalopathy",

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.",

author = "Hisato Suzuki and Takeshi Yoshida and Naoya Morisada and Tomoko Uehara and Kenjiro Kosaki and Katsunori Sato and Kohei Matsubara and Toshiyuki Takano-Shimizu and Toshiki Takenouchi",

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AU - Suzuki, Hisato

AU - Yoshida, Takeshi

AU - Morisada, Naoya

AU - Uehara, Tomoko

AU - Kosaki, Kenjiro

AU - Sato, Katsunori

AU - Matsubara, Kohei

AU - Takano-Shimizu, Toshiyuki

AU - Takenouchi, Toshiki

N1 - Funding Information: This work was supported by the Japan Agency for Medical Research and Development (Grant number JP18ek0109301, JP19gk0110038, and JP18ek0109288h0002). Publisher Copyright: © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

PY - 2019/11/1

Y1 - 2019/11/1

N2 - 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.

AB - 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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ER -

De novo NSF mutations cause early infantile epileptic encephalopathy

Abstract

ASJC Scopus subject areas

UN SDGs

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