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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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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2019
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| Soggetti: | |
| Accesso online: | 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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