Article

Genetic analysis of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variation

2024-11-20

Abstract excerpt

<title>Abstract</title> <p>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 <italic>CSNK2B</italic>, with the aim to reinforce the clinical and variant data pertaining to early genetic factors associated with epilepsy. <bold>Methods</bold>: Trio whole exome sequencing wer...

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Literature Corpus work: 92c7f3d4-3841-5d36-8dfa-a1628b54474a
DOI: 10.21203/rs.3.rs-5311701/v1

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