Associated Papers
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.
Hoogwijs I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 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
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
De Wachter M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
A disease concept model for STXBP1-related disorders.
Sullivan KR et al.
Epilepsia 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
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Janicki E et al.
Diagnostics (basel, Switzerland), 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
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review.
Takeda K et al.
Pediatric Reports, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy.
Lu Z et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I et al.
Epilepsy & Behavior Reports, 2021
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.
Qaiser F et al.
Brain Communications, 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
Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.
Zhu B et al.
Epilepsia, 2020
Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
Viñas-Giménez L et al.
International Journal of Hematology, 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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J et al.
Jama Network Open, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi K et al.
Biomed Research International, 2019
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
Li T et al.
Genes, Brain, and Behavior, 2018
Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.
Jung SH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 2018
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
Zhang Q et al.
Clinical Genetics, 2017
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016