Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SYT1-associated neurodevelopmental disorder: a case series

14 Jul 2018

Abstract excerpt

Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular transport and secretion
Share to Erythrocyte Function and Pathophysiology
Share to Genetics and Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30107533
DOI: 10.1093/brain/awy209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SYT1-associated neurodevelopmental disorder: a case seriesPMID 30107533Read ↗

Delineation of the pathogenic presynaptic mechanisms of synaptotagmin-1 variantsSemantic proximity Read ↗

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorderSemantic proximity Read ↗

Baker-Gordon Syndrome-Associated Synaptotagmin-1 Mutations Reduce Synaptic Strength in Mouse Primary and Human-Induced Neuronal Culture Models.Semantic proximity Read ↗

Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interfaceSemantic proximity Read ↗

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.Semantic proximity Read ↗

Expanding the genotype and phenotype spectrum of <i>SYT1</i>-associated neurodevelopmental disorderSemantic proximity Read ↗

A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter releaseSemantic proximity Read ↗

A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter releaseSemantic proximity Read ↗

The neurodevelopmental spectrum of synaptic vesicle cycling disorders.Semantic proximity Read ↗

Age-Related Characteristics of SYT1-Associated Neurodevelopmental DisorderSemantic proximity Read ↗

Disease-causing mutations in Synaptotagmin can act via dominant-negative, gain-of-function or haploinsufficient mechanismsSemantic proximity Read ↗

Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental DisorderSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.