ArticleEpilepsia open2019
Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study.
Article in Epilepsia open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 54 citations in OpenAlex.
- Article
- Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.Progress in neuro-psychopharmacology & biological psychiatry · 2026Article
- Genetic Testing in Adult Epilepsy Surgery: Low Yield, but Not No Yield.Epilepsy currents · 2026Article
- Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices.Epilepsia · 2026Article
- Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy.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
- 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
- Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases.Frontiers in neuroscience · 2025Article
- Article
- Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.Biomedicines · 2024Article
- Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.Epilepsia open · 2024Article
- Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.Neurology · 2024Observational
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.Epilepsia open · 2024Article
- Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.Epilepsia open · 2024Article
- Article
- Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome.Frontiers in neurology · 2023Article
- Molecular subtypes of epilepsy associated with post-surgical seizure recurrence.Brain communications · 2023Article
- Current practice in diagnostic genetic testing of the epilepsiesEpileptic disorders : international epilepsy journal with videotape · 2022Article
- Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.Neurology. Genetics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic causes are increasingly identified in patients with focal epilepsy. These genetic causes may be related to the effectiveness of epilepsy surgery. We aimed to assess the use and yield of genetic testing in a large cohort of patients who were evaluated for epilepsy surgery.
methodsWe performed a retrospective single-center consecutive cohort study of patients who were evaluated for surgery between 1990 and 2016. Within this cohort, we assessed the use of genetic testing-either before or after presurgical decision-making. We evaluated genetic results as well as the outcome of presurgical decision-making and surgery, and compared these end points for different subgroups-especially MRI-positive
resultsOf the 2385 epilepsy patients who were evaluated for surgery, 1280 (54%) received surgical treatment in our center. Of the entire cohort, 325 (14%) underwent genetic testing, comprising 156 of 450 MRI-negative patients (35%) vs 169 of 1935 MRI-positive patients (9%). A genetic cause of epilepsy was found in 40 of the 325 patients (12%, 2% of the entire cohort), mainly consisting of mutations in ion channel function and synaptic transmission genes, and mTOR pathway gene mutations. Three of the seven patients with mTOR pathway gene mutations underwent surgery; two achieved complete seizure freedom. One of the 17 patients with germline mutations in ion channel function and synaptic transmission genes received resective surgery but was not rendered seizure-free; two other patients underwent invasive intracranial EEG-monitoring before being rejected. SIGNIFICANCE: This study shows that genetic testing is increasingly applied in focal epilepsy patients who are considered for epilepsy surgery. The diagnostic yield of genetic testing is highest in next generation sequencing techniques, and the outcome of genetic testing assists selecting eligible patients for invasive intracranial monitoring and resective surgery.
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