Associated Papers
Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.
Qi L et al.
Medicine, 2026
Munc 18-1 is a multifaceted therapeutic target for dementia.
Singh KS et al.
Ageing Research Reviews, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL et al.
Brain : a Journal of Neurology, 2024
Expression and function of Caenorhabditis elegans UNCP-18, a paralog of the SM protein UNC-18.
Boeglin M et al.
Genetics, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Kessi M et al.
Bmc Medical Genomics, 2023
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.
Agarwala P et al.
Brain Communications, 2023
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Hopkins CE et al.
Genetics in Medicine Open, 2023
STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.
Spaull R et al.
Movement Disorders Clinical Practice, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Targeted stabilization of Munc18-1 function via pharmacological chaperones.
Abramov D et al.
Embo Molecular Medicine, 2021
Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.
Liu X et al.
Frontiers in Neurology, 2021
Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.
Surana P et al.
Epilepsy & Behavior Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Guiberson NGL et al.
Nature Communications, 2018
A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.
Devaux J et al.
Epilepsia, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y et al.
Annals of Neurology, 2017
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
Zhang Q et al.
Clinical Genetics, 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C et al.
Epilepsia, 2015
[STXBP1 gene mutation in newborns with refractory seizures].
Liu LL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
Tso WW et al.
Pediatric Neurology, 2014
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M et al.
Epilepsia, 2011