ReviewFrontiers in neurology2020
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.
Review in Frontiers in neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.Genes · 2023Pooled it
- Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations.Epilepsia · 2026Review
- Prolonged psychiatric symptoms revealed as nonconvulsive status epilepticus in ring chromosome 20 syndrome.Epilepsy & behavior reports · 2025Article
- Mosaic Ring 20 Syndrome: A Meta-Analysis.Neurology. Genetics · 2025Article
- Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.Epilepsia · 2025Article
- Sudden Unexpected Death in Epilepsy: A Narrative Review of Mechanism, Risks, and Prevention.Journal of clinical medicine · 2025Review
- Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.American journal of medical genetics. Part A · 2025Article
- Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?Frontiers in genetics · 2025Article
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- Epilepsy, EEG and chromosomal rearrangements.Epilepsia open · 2024Review
- Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.Molecular cytogenetics · 2022Article
- Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies.Frontiers in neurology · 2022Review
- Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review.Children (Basel, Switzerland) · 2021Article
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 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is characterized by a recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes. Despite the distinctive phenotype, many patients still lack a diagnosis-especially in the genomic era-and the pathomechanisms of ring formation are poorly understood. In this review we address the genetic and clinical aspects of r(20) syndrome, and discuss differential diagnoses and overlapping phenotypes, providing the reader with useful tools for clinical and laboratory practice. We also discuss the current issues in understanding the mechanisms through which ring 20 chromosome causes the typical manifestations, and present unpublished data about methylation studies. Ultimately, we explore future perspectives of r(20) research. Our intended audience is clinical and laboratory geneticists, child and adult neurologists, and genetic counselors.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.