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

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

Abstract 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 gen...

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Bibliographic Details
Main Authors: Liu Yang, Daoqi Mei, Yanping Liu, Li Gao
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Medical Genomics
Subjects:
Poirier-Bienvenu neurodevelopmental syndrome
CSNK2B
Whole exome sequencing
Epilepsy
cDNA sequencing
Online Access:https://doi.org/10.1186/s12920-025-02132-5
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https://doi.org/10.1186/s12920-025-02132-5

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