Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Immune landscape of the affected brain in Rasmussen encephalitis

ABSTRACT: Rasmussen encephalitis (RE) is a rare neuroinflammatory disease characterized by intractable seizures and progressive brain atrophy. We used single cell RNA sequencing to define the types of immune cells in affected brain tissue removed to control seizures. Our analysis highlights the complexity of the immune landscape in brain areas affected by RE and supports the involvement of clonally expanded antigen experienced resident memory CD8 T cells in the etiology of the disease.

ORGANISM(S): Homo sapiens

PROVIDER: GSE312319 | GEO | 2026/01/23

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Immune landscape of the affected brain in Rasmussen encephalitis

Project description:Immune landscape of the affected brain in Rasmussen encephalitis

| PRJNA1373026 | ENA

Molecular Mechanisms in Rasmussen Encephalitis

Project description:Rasmussen encephalitis is a unilateral encephalitis characterized by treatment-resistant epilepsy and progressive cognitive and motor decline. MRI reveals inflammation and neuropathology reveals reactive astrocytes, microglial activation, microglial nodules, T cell infiltration, and neuronal loss. Despite the abundant evidence of altered signaling pathways in Rasmussen brain tissue and associated genetic variants, the mechanisms remain poorly understood, and it is uncertain which are a part or result of the underlying cause In Rasmussen brain tissue, we identified by RNAseq altered immune signaling pathways, immune cell type annotation enrichment, and by whole exome sequencing HLA variants more common to Rasmussen. These findings demonstrate immune cell infiltration associated with innate and adaptive immune responses, as well as HLA variants that may increase vulnerability to RE.

2022-04-05 | MSV000089203 | MassIVE

Brain Molecular Mechanisms in Rasmussen Encephalitis

Project description:Brain Molecular Mechanisms in Rasmussen Encephalitis

| PRJNA1365836 | ENA

Brain Molecular Mechanisms in Rasmussen Encephalitis

Project description:Objective: Identify molecular mechanisms in brain tissue of Rasmussen encephalitis (RE) when compared to people with non-RE epilepsy (PWE) and control cases using whole exome sequencing (WES), RNAseq, and proteomics. Methods: Frozen brain tissue (ages 2-19 years) was obtained from control autopsy (n=14), surgical PWE (n=10), and surgical RE cases (n=27). We evaluated WES variants in RE associated with epilepsy, seizures, RE, and human leukocyte antigens (HLAs). Differential expression was evaluated by RNAseq (adjusted p<0.05) and label-free quantitative mass spectrometry (false discovery rate<5%) in the three groups. Results: WES revealed no common pathogenic variants in RE, although several rare and likely deleterious variants of unknown significance (VUS; ANGPTL7/MTOR, SCN1A, FCGR3B, MTOR) and more common HLA VUS in >25% RE cases (HLA-DRB1, HLA-DQA2) all with allele frequency <5% in the general population. RNAseq in RE vs. PWE (1516 altered transcripts) revealed significant activation of crosstalk between dendritic and natural killer cells (p=7.94x10-6, z=2.65), in RE vs. control (7466 transcripts) neuroinflammation signaling activation (p=6.31x10-13, z=5.07), and in PWE vs. control (945 transcripts) phagosome formation activation (p=2.00x10-13, z=5.61). Proteomics detected fewer altered targets. Significance: In RE, we identified activated immune signaling pathways and immune cell type annotation enrichment that suggest roles of the innate and adaptive immune responses, as well as HLA variants that may increase vulnerability to RE. Follow up studies could evaluate cell type density and subregional localization associated with top targets, clinical history (neuropathology, disease duration), and whether modulating crosstalk between dendritic and natural killer cells may limit disease progression.

2025-11-19 | GSE310367 | GEO

Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis

Project description:Rasmussen encephalitis (RE) is a rare childhood neurological disease characterized by progressive unilateral loss of function, hemispheric atrophy and drug-resistant epilepsy. Affected brain tissue shows signs of infiltrating cytotoxic T-cells, microglial activation, and neuronal death, implicating an inflammatory disease process. Recent studies have identified molecular correlates of inflammation in RE, but cell-type-specific mechanisms remain unclear. We used single-nucleus RNA-sequencing (snRNA-seq) to assess gene expression across multiple cell types in brain tissue resected from two children with RE. We found transcriptionally distinct microglial populations enriched in RE compared to two age-matched individuals with unaffected brain tissue and two individuals with Type I focal cortical dysplasia (FCD). Specifically, microglia in RE tissues demonstrated upregulation of genes associated with cytokine signaling, interferon-mediated pathways, and T-cell activation. We extended these findings using spatial proteomic analysis of tissue from four surgical resections to examine expression profiles of microglia within their pathological context. Microglia that were spatially aggregated into nodules had increased expression of dynamic immune regulatory markers (PD-L1, CD14, CD11c), T-cell activation markers (CD40, CD80) and were physically located near distinct CD4+ and CD8+ lymphocyte populations. These findings help elucidate the complex immune microenvironment of RE.

2022-12-21 | GSE213364 | GEO

Comparison of cortical grey matter from Rasmussen Encephalitis patients and age-matched epileptic controls

Project description:We performed whole-genome transcriptome analysis of Rasmussen Encephalitis of the early disease stages for an overview of differentially expressed pathways leading to widespread neuroinflammation and degeneration.

2019-01-22 | GSE121010 | GEO

Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis

Project description:Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis

| PRJNA880601 | ENA

mRNA expression profile in CHME3 cells infected with Japanese encephalitis virus

Project description:CHME3 cells grown on six-wells were infected with Japanese encephalitis virus (JEV) (P20778 strain ) and total RNA was isolated from cells at 6, 24 and 48 h of post infection mRNA expression was significantly altered in JEV infected human microglial cells. A time dependant change in microRNA profile was noted. Bioinformatics analysis identified anti correlation between differentially expressed miRNAs and the gene expression at different time point which ultimately affected several signalling pathways in microglia cells. Brain enriched microRNAs and a set of microRNA previously designated as NeurimmiRs were also differentially expressed in response to JEV infection Cells grown on 6-well well plate. Three replicates of uninfected and infected samples at each time point was used for mRNA experiment.

2015-01-01 | E-GEOD-57330 | biostudies-arrayexpress

MicroRNA expression profile in CHME3 cells infected with Japanese encephalitis virus

Project description:CHME3 cells grown on six-wells were infected with Japanese encephalitis virus (JEV) (P20778 strain), and total RNA was isolated from cells at 6, 24 and 48 h of post infection. MicroRNA expression was significantly altered in JEV-infected human microglial cells. A time-dependent change in microRNA profile was noted. Bioinformatics analysis identified anti-correlation between differentially expressed miRNAs and the gene expression at different time point which ultimately affected several signalling pathways in microglia cells. Brain-enriched microRNAs and a set of microRNA previously designated as NeurimmiRs were also differentially expressed in response to JEV infection. CHME3 cells grown on 6-well plate. Three replicates of uninfected and JEV-infected samples at each time point (6, 24 and 48 h of post infection) were used for microRNA array.

2015-01-01 | E-GEOD-57410 | biostudies-arrayexpress

mRNA expression profile in CHME3 cells infected with Japanese encephalitis virus

2015-01-01 | GSE57330 | GEO