ArticleJournal of neuropathology and experimental neurology2021
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy.
Article in Journal of neuropathology and experimental neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.Frontiers in radiology · 2026Article
- Glioma genetic profiles associated with electrophysiologic hyperexcitability.Neuro-oncology · 2024Article
- Unexplained Causes of Glioma-Associated Epilepsies: A Review of Theories and an Area for Research.Cancers · 2023Review
- DNA methylation subclass receptor tyrosine kinase II (RTK II) is predictive for seizure development in glioblastoma patients.Neuro-oncology · 2022Article
- DNA methylation as a diagnostic tool.Acta neuropathologica communications · 2022Review
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Characterization and clinical relevance of PDGFRA pathway copy number variation gains across human cancers.Molecular genetics and genomics : MGG · 2022Article
- Molecular diagnostics in drug-resistant focal epilepsy define new disease entities.Brain pathology (Zurich, Switzerland) · 2021Review
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Authors and funding
28 authors at 7 institutions in 2 countries.
Funding
Abstract
Epilepsy is a heterogenous group of disorders defined by recurrent seizure activity due to abnormal synchronized activity of neurons. A growing number of epilepsy cases are believed to be caused by genetic factors and copy number variants (CNV) contribute to up to 5% of epilepsy cases. However, CNVs in epilepsy are usually large deletions or duplications involving multiple neurodevelopmental genes. In patients who underwent seizure focus resection for treatment-resistant epilepsy, whole genome DNA methylation profiling identified 3 main clusters of which one showed strong association with receptor tyrosine kinase (RTK) genes. We identified focal copy number gains involving epidermal growth factor receptor (EGFR) and PDGFRA loci. The dysplastic neurons of cases with amplifications showed marked overexpression of EGFR and PDGFRA, while glial and endothelial cells were negative. Targeted sequencing of regulatory regions and DNA methylation analysis revealed that only enhancer regions of EGFR and gene promoter of PDGFRA were amplified, while coding regions did not show copy number abnormalities or somatic mutations. Somatic focal copy number gains of noncoding regulatory represent a previously unrecognized genetic driver in epilepsy and a mechanism of abnormal activation of RTK genes. Upregulated RTKs provide a potential avenue for therapy in seizure disorders.
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Registered trials
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