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Article

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Genes - 18 Jan 2023

Di Stazio Mariateresa, Zanus Caterina, Faletra Flavio, Pesaresi Alessia, Ziccardi Ilaria, Morgan Anna, Girotto Giorgia, Costa Paola, Carrozzi Marco, d'Adamo Adamo P, Musante Luciana

Abstract excerpt

CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. 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....

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PMID: 36833176
DOI: 10.3390/genes14020250
PMCID: PMC9957394

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