Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
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
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
Martín ME et al.
Seizure, 2025
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.
Freibauer A et al.
Genes, 2023
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J et al.
Brain : a Journal of Neurology, 2023
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
Challenging Case: The Role of Genetic Testing in Complex Autism.
Solgi M et al.
Journal of Developmental and Behavioral Pediatrics : Jdbp, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
Scantlebury MH et al.
The Pan African Medical Journal, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.
Li Y et al.
Frontiers in Cell and Developmental Biology, 2020
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
Rim JH et al.
Bmc Medical Genomics, 2018
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Uddin M et al.
Neurology. Genetics, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015