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Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L. Yang S, et al. Neurogenetics. 2021 Oct;22(4):323-332. doi: 10.1007/s10048-021-00649-2. Epub 2021 Aug 9. Neurogenetics. 2021. PMID: 34370157
Mutations in CSNK2B lead to Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), a rare neurodevelopmental disorder. ...(Met1Ile)), two splice variants (c.292-2A > T, c.558-3 T > G), and one frameshift variant (c.499delC/p.(Leu167Serfs*60)). T …
Mutations in CSNK2B lead to Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), a rare neurodevelopmental di …
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Di Stazio M, Zanus C, Faletra F, Pesaresi A, Ziccardi I, Morgan A, Girotto G, Costa P, Carrozzi M, d'Adamo AP, Musante L. Di Stazio M, et al. Genes (Basel). 2023 Jan 18;14(2):250. doi: 10.3390/genes14020250. Genes (Basel). 2023. PMID: 36833176 Free PMC article.
De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures and variably impaired intellectual development. ...Recently, a subset of CSNK2B missense variants af …
De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome …
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D, Zhou B, Tian X, Chen X, Wang Y, Hao S, Zhang C, Hui L. Li D, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2327. doi: 10.1002/mgg3.2327. Epub 2023 Nov 30. Mol Genet Genomic Med. 2024. PMID: 38037515 Free PMC article. Review.
BACKGROUND: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare autosomal dominant neurologic disorder caused by a heterozygous variant of CSNK2B, which is characterized by early onset epilepsy, hypotonia, varying degrees of intellectual d …
BACKGROUND: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare autosomal dominant neurologic disor …