De novo NSF mutations cause early infantile epileptic encephalopathy

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 ea...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Suzuki, Hisato, Yoshida, Takeshi, Morisada, Naoya, Uehara, Tomoko, Kosaki, Kenjiro, Sato, Katsunori, Matsubara, Kohei, Takano‐Shimizu, Toshiyuki, Takenouchi, Toshiki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856629/
https://ncbi.nlm.nih.gov/pubmed/31675180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50917
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