ArticleEpilepsia open2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Article in Epilepsia open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.International journal of molecular sciences · 2023Pooled it
- Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.Epilepsia · 2021Pooled it
- Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy.Molecular genetics & genomic medicine · 2026Article
- Article
- Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.Neurology. Genetics · 2026Article
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Article
- Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathy.bioRxiv : the preprint server for biology · 2025Article
- The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.European journal of neurology · 2025Article
- Assessing Communication Impairments in a Rare Neurodevelopmental Disorder: TheNeurology. Clinical practice · 2025Article
- Review
- Article
- Adult Phenotype ofNeurology. Genetics · 2024Article
- Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Epilepsia open · 2024Article
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.Journal of child neurology · 2024Article
- Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.Epilepsia open · 2024Observational
- Broadening the scope of multigene panel analysis for adult epilepsy patients.Epilepsia open · 2024Article
- Review
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMolecular genetic etiologies in epilepsy have become better understood in recent years, creating important opportunities for precision medicine. Building on these advances, detailed studies of the complexities and outcomes of genetic testing for epilepsy can provide useful insights that inform and refine diagnostic approaches and illuminate the potential for precision medicine in epilepsy.
methodsWe used a multi-gene next-generation sequencing (NGS) panel with simultaneous sequence and exonic copy number variant detection to investigate up to 183 epilepsy-related genes in 9769 individuals. Clinical variant interpretation was performed using a semi-quantitative scoring system based on existing professional practice guidelines.
resultsMolecular genetic testing provided a diagnosis in 14.9%-24.4% of individuals with epilepsy, depending on the NGS panel used. More than half of these diagnoses were in children younger than 5 years. Notably, the testing had possible precision medicine implications in 33% of individuals who received definitive diagnostic results. Only 30 genes provided 80% of molecular diagnoses. While most clinically significant findings were single-nucleotide variants, ~15% were other types that are often challenging to detect with traditional methods. In addition to clinically significant variants, there were many others that initially had uncertain significance; reclassification of 1612 such variants with parental testing or other evidence contributed to 18.5% of diagnostic results overall and 6.1% of results with precision medicine implications. SIGNIFICANCE: Using an NGS gene panel with key high-yield genes and robust analytic sensitivity as a first-tier test early in the diagnostic process, especially for children younger than 5 years, can possibly enable precision medicine approaches in a significant number of individuals with epilepsy.
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Registered trials
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