Associated Papers
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D et al.
Molecular Genetics & Genomic Medicine, 2024
38037515 (PubMed )
Supplement: MGG3-12-e2327-s001.xlsx › Sheet1
Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X et al.
Frontiers in Pediatrics, 2023
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A et al.
Genes, 2022
De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.
Yang Q et al.
Frontiers in Neurology, 2022
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.
Zhang W et al.
Frontiers in Neuroscience, 2022
35774559 (PubMed )
Supplement: Table_1.xlsx › sheet1
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P et al.
Seizure, 2021
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
Li J et al.
Scientific Reports, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
Nakashima M et al.
Journal of Human Genetics, 2019
Truncating mutation in CSNK2B and myoclonic epilepsy.
Sakaguchi Y et al.
Human Mutation, 2017
Select a paper to view details