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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder.
Park PY et al.
Ebiomedicine, 2024
A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release.
van Boven MA et al.
Molecular Psychiatry, 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
A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Sowińska-Seidler A et al.
Frontiers in Molecular Biosciences, 2023
SYT1-Associated Neurodevelopmental Disorder: A Narrative Review.
Riggs E et al.
Children (basel, Switzerland), 2022
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
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC et al.
Plos One, 2022
Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder.
Bradberry MM et al.
Neuron, 2020
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
SYT1-associated neurodevelopmental disorder: a case series.
Baker K et al.
Brain : a Journal of Neurology, 2018
Exocytosis-related genes and response to methylphenidate treatment in adults with ADHD.
da Silva BS et al.
Molecular Psychiatry, 2018
SNARE complex in developmental psychiatry: neurotransmitter exocytosis and beyond.
Cupertino RB et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2016
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Baker K et al.
The Journal of Clinical Investigation, 2015