ArticleCNS neuroscience & therapeutics2019
Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.
Article in CNS neuroscience & therapeutics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.Neurogenetics · 2026Article
- Article
- Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy.Neurobiology of disease · 2025Article
- Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.Epilepsia · 2025Article
- The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.BMC medicine · 2025Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.Molecular syndromology · 2025Article
- The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.Scientific reports · 2025Article
- Molecular Insights of Drug Resistance in Epilepsy: Multi-omics Unveil.Molecular neurobiology · 2025Review
- Epilepsy-associatedFrontiers in neurology · 2025Article
- Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.European journal of human genetics : EJHG · 2024Article
- A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.Journal of human genetics · 2023Review
- A complex systems view on the current hypotheses of epilepsy pharmacoresistance.Epilepsia open · 2022Review
- Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- A Rare case of central nervous system actinomycosis presenting with moyamoya syndrome.CNS neuroscience & therapeutics · 2022Article
- CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.International journal of molecular sciences · 2022Review
- A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.CNS neuroscience & therapeutics · 2022Article
- Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.Frontiers in pediatrics · 2022Article
- Phenotypic Spectrum and Prognosis of Epilepsy Patients WithFrontiers in molecular neuroscience · 2022Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe purposes of this study were three-fold: (i) to determine the contribution of known genes to the causation of a broad-spectrum of pediatric drug-resistant epilepsy (DRE), (ii) to compare the diagnostic yield and cost among different next-generation sequencing (NGS) approaches, and especially (iii) to assess how NGS approaches can benefit patients by improving diagnosis and treatment efficiency.
methodsThis study enrolled 273 pediatric DRE patients with no obvious acquired etiology. Seventy-four patients underwent whole-exome sequencing (WES), 141 patients had epilepsy-related gene panel testing, and another 58 patients had clinical WES gene panel testing. We obtained these patients' seizure and hospitalization frequency by periodic follow-up phone calls and outpatient visits.
resultsGenetic diagnosis was achieved in 86 patients (31.5%) and involved 93 likely disease-causing mutations in 33 genes. In this study, the detection rates of the epilepsy-related gene panel, the clinical WES gene panel, and WES were 32.6% (46/141), 44.8% (26/58), and 17.3% (13/74), respectively. Moreover, 34 patients accepted corrective therapy according to their mutant genes, after which 52.9% (18/34) became seizure-free and 38.2% (13/34) achieved seizure reduction. In the end, patients with either positive or negative genetic results had significantly fewer hospitalization incidents (times/half year) than before (positive genetic results group 0.58 ± 1.14 vs 0.10 ± 0.26; negative genetic results group 0.72 ± 1.65 vs 0.12 ± 0.33).
conclusionsThese results offer further proof that NGS approaches represent powerful tools for establishing a definitive diagnosis. Moreover, this study indicated how NGS can improve treatment efficacy and reduce hospitalization in children with DRE.
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