Associated Papers
Pathogenic missense variants of CSNK2B associated with Poirier-Bienvenu neurodevelopmental disorder impact differently on CK2 holoenzyme formation.
Kavaliova H et al.
Biological Chemistry, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X et al.
Frontiers in Pediatrics, 2023
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 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
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S et al.
Neurogenetics, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME et al.
Epilepsia, 2021
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y et al.
Ebiomedicine, 2020
32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
Li J et al.
Scientific Reports, 2019
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