Associated Papers
Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.
Bagatelas ED et al.
Biorxiv : the Preprint Server for Biology, 2026
Age-Related Characteristics of SYT1-Associated Neurodevelopmental Disorder.
Norwitz SG et al.
Annals of Clinical and Translational Neurology, 2025
41332143 (PubMed )
Supplement: supplement_1.docx
Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder.
Park PY et al.
Ebiomedicine, 2024
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
Huang W et al.
Neurogenetics, 2024
c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome.
Porto MB et al.
International Medical Case Reports Journal, 2024
Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant.
Cotrina-Vinagre FJ et al.
Journal of Genetics, 2024
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Select a paper to view details