Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorderResearch in context

Summary: Background: Pathogenic missense variants in the essential synaptic vesicle protein synaptotagmin-1 (SYT1) cause a neurodevelopmental disorder characterised by motor delay and intellectual disability, hyperkinetic movement disorder, episodic agitation, and visual impairments. SYT1 is the pr...

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Váldodahkkit:	Paul Yangho Park, Lauren Elizabeth Bleakley, Nadia Saraya, Reem Al-Jawahiri, Josefine Eck, Marc Anthony Aloi, Holly Melland, Kate Baker, Sarah Louise Gordon
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Elsevier 2024-11-01
Ráidu:	EBioMedicine
Fáttát:	Synaptotagmin Neurodevelopmental disorder Intellectual disability Exocytosis Neurotransmission Motor delay
Liŋkkat:	http://www.sciencedirect.com/science/article/pii/S2352396424004523
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