ArticleBrain communications2023
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.
Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02890641 (Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies), which is not on this map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices.Epilepsia · 2026Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Transcriptomic Profiles from Stereo-EEGs May Reflect the Local Brain Cell Microenvironment in Human Epilepsy.Biomolecules · 2025Article
- No association between histopathology and neurophysiology in surgical specimens from pediatric focal epilepsy patients.Epilepsia · 2025Article
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.Nature neuroscience · 2025Article
- Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.Epilepsia · 2025Article
- The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.Scientific reports · 2025Article
- ILAE genetic literacy series: Focal cortical dysplasia.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- High-resolution multimodal profiling of human epileptic brain activity via explanted depth electrodes.JCI insight · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy.Frontiers in surgery · 2025Review
- Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.Neurology. Genetics · 2024Article
- Characterization of low-grade epilepsy-associated tumor from implanted stereoelectroencephalography electrodes.Epilepsia open · 2024Article
- Somatic Mosaicism inNeurology. Genetics · 2024Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling pathway cause focal epilepsies associated with focal cortical dysplasia type II. We hypothesized that somatic variants could be identified from trace tissue adherent to explanted stereoelectroencephalography electrodes used in the presurgical epilepsy workup to localize the epileptogenic zone. We investigated three paediatric patients with drug-resistant focal epilepsy subjected to neurosurgery. In the resected brain tissue, we identified low-level mosaic somatic mutations in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.