Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?
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DOI: 10.3389/fmolb.2022.850559
Abstract: In recent years, variants in the catalytic and regulatory subunits of the kinase CK2 have been found to underlie two different, yet symptomatically overlapping neurodevelopmental disorders, termed Okur-Chung neurodevelopmental syndrome (OCNDS) and Poirier-Bienvenu neurodevelopmental syndrome… read more here.
Keywords: neurodevelopmental disorders; neurodevelopmental syndrome; poirier bienvenu; okur chung ... See more keywords
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
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DOI: 10.3389/fneur.2022.811092
Abstract: The Poirier–Bienvenu neurodevelopmental syndrome is an autosomal dominant disorder characterized by intellectual disability and epilepsy. The disease is caused by mutations in the CSNK2B gene, which encodes the beta subunit of casein kinase II, and… read more here.
Keywords: neurodevelopmental syndrome; poirier bienvenu; csnk2b mutations; bienvenu neurodevelopmental ... See more keywords
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations
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DOI: 10.3389/fnins.2022.892768
Abstract: CSNK2B has recently been identified as the causative gene for Poirier–Bienvenu neurodevelopmental syndrome (POBINDS). POBINDS is a rare neurodevelopmental disorder characterized by early-onset epilepsy, developmental delay, hypotonia, and dysmorphism. Limited by the scarcity of patients,… read more here.
Keywords: phenotype correlations; poirier bienvenu; genotype phenotype; intron variants ... See more keywords
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
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DOI: 10.3390/genes13020276
Abstract: Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include… read more here.
Keywords: mutations csnk2b; poirier bienvenu; poirier; expanding phenotype ... See more keywords