ArticleNPJ genomic medicine2018
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Article in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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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.
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Who cites it
31 citing papers in PubMed.
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.Epilepsia · 2026Article
- The personal utility of genetic testing in children with epilepsy.Journal of genetic counseling · 2026Article
- A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.bioRxiv : the preprint server for biology · 2025Article
- Barriers to the implementation of epilepsy genetic testing and counseling guidelines.Epilepsia open · 2025Article
- Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.International journal of molecular sciences · 2025Article
- Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.Molecular syndromology · 2025Article
- Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.Annals of clinical and translational neurology · 2025Article
- Factors impacting time to genetic diagnosis for children with epilepsy.Epilepsia open · 2024Article
- Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.Neurology. Genetics · 2022Article
- Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics.Human cell · 2022Review
- Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.Brain : a journal of neurology · 2021Article
- Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.Neuromolecular medicine · 2021Review
- Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.Journal of epilepsy research · 2021Article
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicine · 2021Article
- The L1624Q Variant inFrontiers in pharmacology · 2021Article
- Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.Epilepsy & behavior reports · 2021Article
- Article
- Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.Frontiers in neurology · 2021Review
- Impact of predictive, preventive and precision medicine strategies in epilepsy.Nature reviews. Neurology · 2020Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team. We held an educational workshop for paediatricians and nurses. We sent questionnaires to referring paediatricians and families. We analysed investigation costs for 16 neonatal epilepsy patients. Of 96 patients, a genetic diagnosis was made in 34% of patients with seizure onset < 2 years, and 4% > 2 years, with turnaround time of 21 days. Pathogenic variants were seen in
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Registered trials
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