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Article

Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant.

BMC medical genomics - 10 Apr 2025

Yang Liu, Mei Daoqi, Liu Yanping, Gao Li

Abstract excerpt

BACKGROUND: CSNK2B deficiency underlies the pathogenesis of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). In this study, we present four cases of pediatric seizures caused by de novo variants in CSNK2B, with the aim to reinforce the clinical and variant data pertaining to early genetic factors associated with epilepsy. METHODS: Trio whole exome sequencing were used to detect variants in the proband and...

Read the complete abstract on PubMed

Topics

Humans
Female
Child, Preschool
Child
Casein Kinase II
Male
Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Pedigree

Mutation

Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 40211296
DOI: 10.1186/s12920-025-02132-5
PMCID: PMC11983931

Genes

CSNK2B

Provenance

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