ArticleFrontiers in neuroscience2021
Genetic Factors in Rasmussen's Encephalitis Characterized by Whole-Exome Sequencing.
Article in Frontiers in neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Immune landscape of the affected brain in Rasmussen encephalitis.Scientific reports · 2026Article
- Rasmussen Encephalitis: Clinical Features, Pathophysiology, and Management Strategies-A Comprehensive Literature Review.Medicina (Kaunas, Lithuania) · 2024Review
- Estimating the Number of Polygenic Diseases Among Six Mutually Exclusive Entities of Non-Tumors and Cancer.International journal of molecular sciences · 2024Review
- Unveiling post-COVID-19 Rasmussen's encephalitis: a case report of rare neurological complication.Annals of medicine and surgery (2012) · 2024Article
- Article
- Brain molecular mechanisms in Rasmussen encephalitis.Epilepsia · 2023Article
- A Special Case of Relapsing-Remitting Bilateral Encephalitis: Without Epilepsy, but Responding to Rituximab and with a Brain Biopsy Coinciding with Rasmussen Encephalitis.Brain sciences · 2022Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rasmussen's encephalitis (RE) is a rare chronic neurological disorder characterized by unihemispheric brain atrophy and epileptic seizures. The mechanisms of RE are complex. Adaptive immunity, innate immunity and viral infection are all involved in the development of RE. However, there are few studies on the role of genetic factors in the mechanisms of RE. Thus, the objective of this study was to reveal the genetic factors in the mechanisms of RE. Whole-exome sequencing (WES) was performed in 15 RE patients. Ten patients with temporal lobe epilepsy (TLE), which is a common and frequently intractable seizure disorder, were used as the controls. Thirty-one non-silent single nucleotide variants (SNVs) affecting 16 genes were identified in the RE cases. The functions of the genes with SNVs were associated with antigen presentation, antiviral infection, epilepsy, schizophrenia and nerve cell regeneration. Genetic factors of RE were found first in this study. These results suggest that RE patients have congenital abnormalities in adaptive immunity and are susceptible to some harmful factors, which lead to polygenic abnormal disease.
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