Article

Expanding the genotype and phenotype spectrum of <i>SYT1</i>-associated neurodevelopmental disorder

2021-07-25

Abstract excerpt

<h4>Purpose</h4> Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behavioural disturbance and EEG abnormalities. Here, we expand the genotypes and phenotypes and identify discriminating features of this disorder. <h4>Methods</h4...

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Literature Corpus work: 372c7a36-57ad-5fd2-b8f8-d09f54f8e758
DOI: 10.1101/2021.07.21.21260857

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