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References from Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay. Local targets link to admitted publications; unresolved targets remain external evidence.
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
10.1212/wnl.0000000000002457 · 2016 · External reference
Early life seizures and epileptic spasms in STXBP1‐related disorders
10.1111/epi.17886 · 2024 · External reference
Assessing the landscape of STXBP1‐related disorders in 534 individuals
10.1093/brain/awab327 · 2022 · External reference
Delineating clinical and developmental outcomes in STXBP1‐related disorders
10.1093/brain/awad287 · 2023 · External reference
The ClinGen epilepsy gene curation expert panel‐bridging the divide between clinical domain knowledge and formal gene curation criteria
10.1002/humu.23632 · 2018 · External reference
Reduced protein stability of 11 pathogenic missense STXBP1/MUNC18‐1 variants and improved disease prediction
10.1016/j.biopsych.2024.03.007 · 2024 · External reference
Disease‐linked mutations in Munc18‐1 deplete synaptic Doc2
10.1093/brain/awae019 · 2024 · External reference
Mechanism‐based rescue of Munc18‐1 dysfunction in varied encephalopathies by chemical chaperones
10.1038/s41467-018-06507-4 · 2018 · External reference
Functional analysis of epilepsy‐associated variants in STXBP1/Munc18‐1 using humanized Caenorhabditis elegans
10.1111/epi.16464 · 2020 · External reference
Snares and munc18 in synaptic vesicle fusion
10.1038/nrn898 · 2002 · External reference
Membrane fusion: grappling with SNARE and SM proteins
10.1126/science.1161748 · 2009 · External reference
Syntaxin 1B, but not syntaxin 1A, is necessary for the regulation of synaptic vesicle exocytosis and of the readily releasable pool at central synapses
10.1371/journal.pone.0090004 · 2014 · External reference
Titration of Syntaxin1 in mammalian synapses reveals multiple roles in vesicle docking, priming, and release probability
10.1523/jneurosci.0187-13.2013 · 2013 · External reference
Munc18‐1 binding to the neuronal SNARE complex controls synaptic vesicle priming
10.1083/jcb.200812026 · 2009 · External reference
The trans‐SNARE‐regulating function of Munc18‐1 is essential to synaptic exocytosis
10.1038/ncomms9852 · 2015 · External reference
Munc18‐1 catalyzes neuronal SNARE assembly by templating SNARE association
10.7554/elife.41771 · 2018 · External reference
Efficient and flexible tagging of endogenous genes by homology‐independent intron targeting
10.1101/gr.246413.118 · 2019 · External reference
Exploration of new chromophore structures leads to the identification of improved blue fluorescent proteins
10.1021/bi700199g · 2007 · External reference
Unresolved reference
External reference
Psychometric validation of a clinician‐reported clinical severity assessment in STXBP1‐related disorder
2026 · External reference
Severity assessment in CDKL5 deficiency disorder
10.1016/j.pediatrneurol.2019.03.017 · 2019 · External reference
Visualization of composite plots in R using a programmatic approach and smplot2
2024 · External reference
Smplot: an R package for easy and elegant data visualization
10.3389/fgene.2021.802894 · 2021 · External reference
Implementation of a fluorescence‐based screening assay identifies histamine H3 receptor antagonists clobenpropit and iodophenpropit as subunit‐selective N‐methyl‐D‐aspartate receptor antagonists
10.1124/jpet.110.166256 · 2010 · External reference
A NMDA‐receptor calcium influx assay sensitive to stimulation by glutamate and glycine/D‐serine
10.1038/s41598-017-11947-x · 2017 · External reference
High‐throughput screening identifies a trafficking corrector for long QT syndrome‐associated KCNQ1 variants
10.1172/jci.insight.201297 · 2026 · External reference
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
10.1126/scitranslmed.adr0024 · 2025 · External reference
High‐throughput evaluation of epilepsy‐associated KCNQ2 variants reveals functional and pharmacological heterogeneity
10.1172/jci.insight.156314 · 2022 · External reference
Syntaxin1a variants lacking an N‐peptide or bearing the LE mutation bind to Munc18a in a closed conformation
10.1073/pnas.1303753110 · 2013 · External reference
Improved split fluorescent proteins for endogenous protein labeling
10.1038/s41467-017-00494-8 · 2017 · External reference
Structural analysis of the neuronal SNARE protein syntaxin‐1A
10.1021/bi0003994 · 2000 · External reference
A conformational switch in syntaxin during exocytosis: role of munc18
10.1093/emboj/18.16.4372 · 1999 · External reference
Allosteric control of syntaxin 1a by Munc18‐1: characterization of the open and closed conformations of syntaxin
10.1016/j.bpj.2013.02.004 · 2013 · External reference
A syntaxin 1, Galpha(o), and N‐type calcium channel complex at a presynaptic nerve terminal: analysis by quantitative immunocolocalization
10.1523/jneurosci.0346-04.2004 · 2004 · External reference
Munc18a controls SNARE assembly through its interaction with the syntaxin N‐peptide
10.1038/emboj.2008.37 · 2008 · External reference
Selective activation of cognate SNAREpins by Sec1/Munc18 proteins
10.1016/j.cell.2006.12.016 · 2007 · External reference
Extension of helix 12 in Munc18‐1 induces vesicle priming
10.1523/jneurosci.0007-16.2016 · 2016 · External reference
Munc18‐1 and the Syntaxin‐1 N terminus regulate open‐closed states in a t‐SNARE complex
10.1016/j.str.2016.01.005 · 2016 · External reference
The Habc domain and the SNARE core complex are connected by a highly flexible linker
10.1021/bi027437z · 2003 · External reference
Rescue of Munc18‐1 and −2 double knockdown reveals the essential functions of interaction between Munc18 and closed syntaxin in PC12 cells
10.1091/mbc.e09-08-0712 · 2009 · External reference
De novo mutations in the gene encoding STXBP1 (MUNC18‐1) cause early infantile epileptic encephalopathy
10.1038/ng.150 · 2008 · External reference
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
2026 · External reference
Cortical visual impairment across a range of neurodevelopmental disorders: clinical characterization, diagnostic tool evaluation, and association with developmental outcomes
10.1177/08830738251361698 · 2025 · External reference
Cerebral visual impairment in CDKL5 deficiency disorder correlates with developmental achievement
10.1177/08830738211019284 · 2021 · External reference
Protein instability, haploinsufficiency, and cortical hyper‐excitability underlie STXBP1 encephalopathy
10.1093/brain/awy046 · 2018 · External reference
Base‐edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy
10.1016/j.ymthe.2022.03.001 · 2022 · External reference
Reduced MUNC18‐1 levels, synaptic proteome changes, and altered network activity in STXBP1‐related disorder patient neurons
10.1016/j.bpsgos.2023.05.004 · 2024 · External reference
Syntaxin/Munc18 interactions in the late events during vesicle fusion and release in exocytosis
10.1074/jbc.m400827200 · 2004 · External reference
p.His16Arg of STXBP1 (MUNC18‐1) associated with Syntaxin 3B causes autosomal dominant congenital nystagmus
10.3389/fcell.2020.591781 · 2020 · External reference
Ordering the final events in yeast exocytosis
10.1083/jcb.151.2.439 · 2000 · External reference
EpiPred: a gene‐specific machine learning model for classifying missense variants in the epilepsy‐related gene STXBP1
2025 · External reference
