Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
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
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H et al.
Neurology, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 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
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Houtman SJ et al.
Frontiers in Physiology, 2021
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
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL et al.
Neurology, 2014