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Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P, Baggio M, Duma GM, Negrin S, Danieli A, Giorda R. Bonanni P, et al. Seizure. 2021 Dec;93:133-139. doi: 10.1016/j.seizure.2021.10.019. Epub 2021 Oct 27. Seizure. 2021. PMID: 34740143 Free article. Review.
AIM: To better characterize the clinical phenotype of Poirier-Bienvenu neurodevelopmental syndrome (OMIM ID: 618,732) due to pathogenic variants of the CSNK2B gene. ...
AIM: To better characterize the clinical phenotype of Poirier-Bienvenu neurodevelopmental syndrome (OMIM ID: 618 …
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. ...
Mutations in CSNK2B lead to Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), a rare neurodevelopmental di …
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 …
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Selvam P, Jain A, Cheema A, Atwal H, Forghani I, Atwal PS. Selvam P, et al. Am J Med Genet A. 2021 Feb;185(2):539-543. doi: 10.1002/ajmg.a.61960. Epub 2020 Nov 9. Am J Med Genet A. 2021. PMID: 33166063
CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associated with CSNK2B pathogenic variants is yet to be fully explored. Here, we describe a patient with features suggestive of Po …
CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phe …