SynthesisEpilepsia2019
Diagnostic implications of genetic copy number variation in epilepsy plus.
Synthesis in Epilepsia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
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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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- Pooled it
- The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.Pediatric research · 2026Article
- Genome-wide rare copy number variations potentially associated with drug resistance in epilepsy.Scientific reports · 2026Article
- Article
- Holistic Exome-Based Genetic Testing in Adults With Epilepsy.Neurology. Genetics · 2025Article
- Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.Frontiers in genetics · 2025Article
- Etiological analysis of 167 cases of drug-resistant epilepsy in children.Italian journal of pediatrics · 2024Article
- The role of copy number variants in the genetic architecture of common familial epilepsies.Epilepsia · 2024Article
- Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.International journal of molecular sciences · 2024Article
- An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.G3 (Bethesda, Md.) · 2023Article
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
- Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.Movement disorders clinical practice · 2023Review
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.Frontiers in neuroscience · 2023Article
- Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022Article
- Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.Brain : a journal of neurology · 2021Article
- Genetic Testing in Pediatric Epilepsy.Indian journal of pediatrics · 2021Review
- The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 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
40 authors at 17 institutions in 8 countries.
Funding
Abstract
objectiveCopy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available.
methodsWe assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy.
resultsOf 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51-6.68; P = 2.34 × 10 SIGNIFICANCE: The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes.
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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.