Associated Papers
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
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
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
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 performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Alterations of presynaptic proteins in autism spectrum disorder.
Yeo XY et al.
Frontiers in Molecular Neuroscience, 2022
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder.
Bradberry MM et al.
Neuron, 2020
SYT1-associated neurodevelopmental disorder: a case series.
Baker K et al.
Brain : a Journal of Neurology, 2018
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