Associated Papers
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
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
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
35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.
Suri M et al.
Molecular Genetics & Genomic Medicine, 2017
28944233 (PubMed )
Supplement: MGG3-5-495-s001.xlsx › Suri_TableS1
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
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF et al.
European Journal of Human Genetics : Ejhg, 2011
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