ArticleEpilepsia2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Article in Epilepsia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- CSNK2B-associated epilepsy: family report and literature review.Acta epileptologica · 2026Article
- CSNK2B gene replacement rescues autism-related phenotypes and establishes translational EEG biomarkers.Cell reports. Medicine · 2026Article
- Single nucleotide variants inBiochemistry and biophysics reports · 2026Article
- Article
- Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy.Epilepsia open · 2025Article
- Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.Epilepsia · 2025Article
- Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant.BMC medical genomics · 2025Article
- CSNK2B Mutation: A Rare Cause of IGHD.Clinical endocrinology · 2025Article
- Case Report: A case of Poirier-Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia.Frontiers in pediatrics · 2025Article
- Article
- Case report: Novel deletions in the 6p21.33 involving theFrontiers in medicine · 2024Article
- Casein Kinase 2 Affects Epilepsy by Regulating Ion Channels: A Potential Mechanism.CNS & neurological disorders drug targets · 2024Review
- Article
- Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.Frontiers in pediatrics · 2023Article
- Article
- Article
- Two different presentations of de novo variants of CSNK2B: two case reports.Journal of medical case reports · 2022Article
- Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?Frontiers in molecular biosciences · 2022Review
- Splicing Interruption by Intron Variants inFrontiers in neuroscience · 2022Article
- Article
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Authors and funding
57 authors at 20 institutions in 6 countries.
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Abstract
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.