Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.
Qi L et al.
Medicine, 2026
Early mortality in STXBP1-related disorders.
Furia F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
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
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G et al.
Neurology. Genetics, 2022
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
Li T et al.
Genes, Brain, and Behavior, 2018
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J et al.
Brain : a Journal of Neurology, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
Gburek-Augustat J et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C et al.
Epilepsia, 2015
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
A novel STXBP1 mutation causes focal seizures with neonatal onset.
Vatta M et al.
Journal of Child Neurology, 2012
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C et al.
Epilepsia, 2011
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF et al.
European Journal of Human Genetics : Ejhg, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF et al.
American Journal of Human Genetics, 2011
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H et al.
Epilepsia, 2010
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
Hamdan FF et al.
Annals of Neurology, 2009
[Images in child neurology. A 39-year-old female showing hypotonia, spastic quardriplegia and profound intellectual disabilities].
Hachiya Y
No to Hattatsu = Brain and Development, 2006