ArticleFrontiers in neurology2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Article in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed.
- From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.Human genetics · 2026Article
- 4-Phenylbutyrate Rescue inCells · 2026Article
- 4-Phenylbutyrate Rescue inbioRxiv : the preprint server for biology · 2026Article
- The personal utility of genetic testing in children with epilepsy.Journal of genetic counseling · 2026Article
- Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.European journal of human genetics : EJHG · 2025Article
- Putting control into parents' hands: Parent experiences with a genomic results e-booklet.Journal of genetic counseling · 2025Article
- Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.Epilepsia · 2025Article
- Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.Italian journal of pediatrics · 2025Article
- Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.American journal of human genetics · 2025Article
- Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant inCase reports in pediatrics · 2025Article
- Factors impacting time to genetic diagnosis for children with epilepsy.Epilepsia open · 2024Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Article
- Expanding the genotype-phenotype spectrum in SCN8A-related disorders.BMC neurology · 2024Article
- Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.Frontiers in genetics · 2024Article
- Steps to Improve Precision Medicine in Epilepsy.Molecular diagnosis & therapy · 2023Article
- D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
- Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.European journal of human genetics : EJHG · 2023Article
- De Novo Variant in theGenes · 2023Article
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25 authors.
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Abstract
Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. WES was performed on 180 patients with early-onset epilepsy (≤5 years) of unknown cause. Patients were classified as Retrospective (epilepsy diagnosis >6 months) or Prospective (epilepsy diagnosis <6 months). WES was performed on an Ion Proton™ and variant reporting was restricted to the sequences of 620 known epilepsy genes. Diagnostic yield and time to diagnosis were calculated. An analysis of cost and impact on treatment was also performed. A molecular diagnoses (pathogenic/likely pathogenic variants) was achieved in 59/180 patients (33%). Clinical management changed following WES findings in 23 of 59 diagnosed patients (39%) or 13% of all patients. A possible diagnosis was identified in 21 additional patients (12%) for whom supporting evidence is pending. Time from epilepsy onset to a genetic diagnosis was faster when WES was performed early in the diagnostic process (mean: 145 days Prospective vs. 2,882 days Retrospective). Costs of prior negative tests averaged $8,344 per patient in the Retrospective group, suggesting savings of $5,110 per patient using WES. These results highlight the diagnostic yield, clinical utility and potential cost-effectiveness of using targeted WES early in the diagnostic workup of patients with unexplained early-onset epilepsy. The costs and clinical benefits are likely to continue to improve. Advances in precision medicine and further studies regarding impact on long-term clinical outcome will be important.
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