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
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Trivisano M et al.
Epilepsy & Behavior : E&b, 2023
Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X et al.
Frontiers in Pediatrics, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
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
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
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
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Selvam P et al.
American Journal of Medical Genetics. Part A, 2021
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