De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
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
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
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