ArticleJournal of neurology2024
Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 11 citations in OpenAlex.
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Article
- Genetic Testing in Adult Epilepsy Surgery: Low Yield, but Not No Yield.Epilepsy currents · 2026Article
- Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations.Epilepsia · 2026Review
- Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy.Epilepsia · 2026Article
- Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices.Epilepsia · 2026Article
- Initial negative imaging in GATOR1-associated genetic epilepsy does not preclude the existence of a focal, resectable epileptogenic zone: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.Brain : a journal of neurology · 2026Article
- The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.Brain : a journal of neurology · 2026Review
- Transcriptomic decoding of regional cortical vulnerability to drug-resistant epilepsy using 7T MRI.Communications biology · 2025Article
- Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.The Journal of international medical research · 2025Observational
- Genetic Testing in the Presurgical Evaluation of Drug-Resistant Epilepsy: Bells and Whistles or Nuts and Bolts?Epilepsy currentsArticle
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7 authors at 3 institutions in 1 country.
Funding
Abstract
We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected included NPRL3 (3 patients, all related), TSC2 (3 patients), KCNH1, CHRNA4, SPTAN1, DEPDC5, SCN2A, ARX, SCN1A, DLG4, and ST5. One patient had ring chromosome 20, one a 7.17p12 duplication, and one a 15q13 deletion. In six patients, suspected epileptogenic lesions were identified on brain MRI that were thought to be unrelated to the genetic finding. A specific medical therapy choice was allowed due to genetic diagnosis in three patients who did not undergo surgery. Obtaining a molecular diagnosis may dramatically alter management in pediatric patients with drug-resistant focal epilepsy. Genetic testing should be incorporated as part of standard investigations in the pre-surgical work-up of pediatric patients with drug-resistant focal epilepsy.
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