De novo NSF mutations cause early infantile epileptic encephalopathy

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 encephalopa...

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Bibliographic Details
Main Authors: Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano‐Shimizu, Toshiki Takenouchi
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50917

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https://doi.org/10.1002/acn3.50917

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