ArticleEpilepsia2020
Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Article in Epilepsia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 78 citations in OpenAlex.
- Single cell RNA-sequencing reveals neuron type-specific vulnerabilities in a model of STXBP1-related disorder.Molecular psychiatry · 2026Article
- Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology.Database : the journal of biological databases and curation · 2026Article
- Expanding the phenotypic and genotypic spectrum ofBrain communications · 2026Article
- Barriers to the implementation of epilepsy genetic testing and counseling guidelines.Epilepsia open · 2025Article
- Holistic Exome-Based Genetic Testing in Adults With Epilepsy.Neurology. Genetics · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.The Journal of international medical research · 2025Observational
- Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.Molecular syndromology · 2025Article
- Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.Epilepsia open · 2024Article
- MEF2C Alleviates Postoperative Cognitive Dysfunction by Repressing Ferroptosis.CNS neuroscience & therapeutics · 2024Article
- Broadening the scope of multigene panel analysis for adult epilepsy patients.Epilepsia open · 2024Article
- Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.Annals of clinical and translational neurology · 2024Article
- In vitro human cell culture models in a bench-to-bedside approach to epilepsy.Epilepsia open · 2024Review
- Identification of common core ion channel genes in epilepsy and Alzheimer's disease.Irish journal of medical science · 2024Review
- Review
- Further advances in epilepsy.Journal of neurology · 2023Review
- Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.Neurology · 2023Article
- Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.Heliyon · 2023Article
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients.
methodsTwo hundred patients (age span = 18-80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of genetically diagnosed patients were mined for data on epilepsy syndrome, cognition, treatment changes, and seizure outcome following the genetic diagnosis.
resultsWe found a genetic diagnosis in 46 of 200 (23%) patients. SCN1A, KCNT1, and STXBP1 accounted for the greatest number of positive findings (48%). More rare genetic findings included SLC2A1, ATP6A1V, HNRNPU, MEF2C, and IRF2BPL. Gene-specific treatment changes were initiated in 11 of 46 (17%) patients (one with SLC2A1, 10 with SCN1A) following the genetic diagnosis. Ten patients improved, with seizure reduction and/or increased alertness and general well-being. SIGNIFICANCE: With this study, we show that routine diagnostic testing is highly relevant in adults with epilepsy. The diagnostic yield is similar to previously reported pediatric cohorts, and the genetic findings can be useful for therapeutic decision-making, which may lead to better seizure control, ultimately improving quality of life.
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