Article

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorder

2023-11-26

Abstract excerpt

Pathogenic missense variants in the essential synaptic vesicle protein synaptotagmin-1 (SYT1) cause a neurodevelopmental disorder that is characterised by motor delay and intellectual disability, hyperkinetic movement disorder, episodic agitation, and visual impairments. SYT1 is the presynaptic calcium sensor that both triggers and drives synchronous neurotransmitter release. We have previously shown that pathogen...

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Literature Corpus work: 1cda6c6b-9e74-5617-9697-6802fcc09981
DOI: 10.1101/2023.11.25.568507

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