ArticleMolecular syndromology2022
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.Molecular genetics & genomic medicine · 2025Pooled it
- Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.Molecular genetics & genomic medicine · 2024Pooled it
- Functional characterization of 42 CK2α de novo variants associated with Okur-Chung neurodevelopmental syndrome.The FEBS journal · 2026Article
- Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.Journal of human genetics · 2026Article
- Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders.Journal of autism and developmental disorders · 2025Article
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025Article
- The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.International journal of molecular sciences · 2025Article
- OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.Frontiers in human neuroscience · 2025Article
- Identification and functional analysis of a novelFrontiers in genetics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Autosomal dominant pathogenic variations in the Methods: The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in Results: The proband has global developmental delay, speech disorders, epilepsy, and behavioral issues. Despite the previously reported cases, she manifested both atonic and myoclonic seizures simultaneously. Lastly, we provide a review of the reported cases with OCNDS. Discussion: p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regarding
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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.