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Article

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

Epilepsy & behavior : E&B - 1 Oct 2023

Trivisano Marina, Dominicis Angela De, Stregapede Fabrizia, Quintavalle Chiara, Micalizzi Alessia, Cappelletti Simona, Dentici Maria Lisa, Sinibaldi Lorenzo, Calabrese Costanza, Terracciano Alessandra, Vigevano Federico, Novelli Antonio, Specchio Nicola

Abstract excerpt

CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732), characterized by facial dysmorphisms, seizures, intellectual disability, and behavioral disturbances. We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome...

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Identifiers

PMID: 37717460
DOI: 10.1016/j.yebeh.2023.109436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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