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
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders.
Mo A et al.
Neurology. Genetics, 2025
STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research.
Ruano-Rodríguez S et al.
Biotech (basel (switzerland)), 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL et al.
Brain : a Journal of Neurology, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Expression and function of Caenorhabditis elegans UNCP-18, a paralog of the SM protein UNC-18.
Boeglin M et al.
Genetics, 2023
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.
Freibauer A et al.
Genes, 2023
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Spagnoli C et al.
International Journal of Molecular Sciences, 2023
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 2023
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders.
Wang H et al.
Frontiers in Neurology, 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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 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
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
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
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.
Zhu B et al.
Epilepsia, 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
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019