RE
MCID: RSM001
MIFTS: 49

Rasmussen Encephalitis (RE)

Categories: Immune diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rasmussen Encephalitis

MalaCards integrated aliases for Rasmussen Encephalitis:

Name: Rasmussen Encephalitis 53 37 55
Rasmussen's Encephalitis 54
Rasmussen Syndrome 73
Re 53

Classifications:



External Ids:

KEGG 37 H01812
UMLS 73 C0393484

Summaries for Rasmussen Encephalitis

NINDS : 54 Rasmussen’s encephalitis (RE) is a very rare, chronic inflammatory neurological disease that usually affects only one hemisphere (half) of the brain.  It most often occurs in children under the age of 10 but can also affect adolescents and adults.  It has features of an autoimmune disease in which immune system cells enter the brain and cause damage.  RE is characterized by frequent and severe seizures, progressive loss of neurological functions including motor skills, speech, and eventual paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration.  Children with RE frequently enter a phase of permanent, but stable, neurological deficits after 8 to 12 months; the disease in adults and adolescents may continue to progress slowly.  

MalaCards based summary : Rasmussen Encephalitis, also known as rasmussen's encephalitis, is related to autoimmune disease and encephalitis. An important gene associated with Rasmussen Encephalitis is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3), and among its related pathways/superpathways are T cell receptor signaling pathway and Allograft rejection. The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and lung, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 53 Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. While the cause of Rasmussen encephalitis is unknown, there is evidence that in many patients it is an autoimmune disorder. Immune therapy and surgery may be used for treatment.

Wikipedia : 76 Rasmussen''s encephalitis, also known as chronic focal encephalitis (CFE), is a rare inflammatory... more...

Related Diseases for Rasmussen Encephalitis

Diseases in the Rasmussen Encephalitis family:

Rasmussen Subacute Encephalitis

Diseases related to Rasmussen Encephalitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 30.1 GAD1 IFNG IL4 IL6 TNF
2 encephalitis 11.0
3 eosinophilic fasciitis 10.2 BMP6 IFNG
4 autoimmune disease 1 10.2
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
6 tropical endomyocardial fibrosis 10.2 IL4 TNF
7 endomyocardial fibrosis 10.2 IL4 TNF
8 scorpion envenomation 10.2 IL6 TNF
9 hyperlucent lung 10.2 IFNG IL4
10 skin sarcoidosis 10.2 ADK TNF
11 leukomalacia 10.2 IL6 TNF
12 b-cell growth factor 10.2 IFNG IL4 IL6
13 hand, foot and mouth disease 10.2 HMGB1 IFNG IL6
14 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 IL6 TNF
15 proliferative glomerulonephritis 10.2 IFNG IL4 IL6
16 conjunctivitis 10.2 IFNG IL4 IL6
17 tungiasis 10.1 IL4 TNF
18 anca-associated vasculitis 10.1 HMGB1 IL6 TNF
19 autoimmune gastritis 10.1 IL4 IL6 TNF
20 critical limb ischemia 10.1 IL6 TNF
21 staphylococcal toxic shock syndrome 10.1 HMGB1 IFNG TNF
22 dry eye syndrome 10.1 BMP6 IL6 TNF
23 streptococcal toxic-shock syndrome 10.1 IL6 TNF
24 idiopathic neutropenia 10.1 HMGB1 IL6 TNF
25 autoimmune myocarditis 10.1 IFNG IL4 TNF
26 aphthous stomatitis 10.1 IL4 IL6 TNF
27 status epilepticus 10.1
28 linear scleroderma 10.1
29 keratoconjunctivitis sicca 10.1 IL4 IL6 TNF
30 extrinsic cardiomyopathy 10.1 IL4 IL6 TNF
31 scleritis 10.1 IFNG IL4 TNF
32 appendicitis 10.1 HMGB1 IL6 TNF
33 stachybotrys chartarum 10.1 IL18 IL6 TNF
34 rheumatic heart disease 10.1 IL4 IL6 TNF
35 uveitis 10.1 IFNG IL4 TNF
36 orofacial granulomatosis 10.1 IFNG IL4 TNF
37 primary systemic mycosis 10.1 IFNG IL4 TNF
38 poliomyelitis 10.1 IFNG IL4 TNF
39 lichen disease 10.1 IFNG IL4 TNF
40 coccidiosis 10.1 IFNG IL4 TNF
41 adult-onset still's disease 10.1 IL18 IL6 TNF
42 meconium aspiration syndrome 10.1 IFNG IL6 TNF
43 fasciitis 10.1 IL18 IL6 TNF
44 central nervous system vasculitis 10.1 IFNG IL6 TNF
45 intermediate uveitis 10.1 IFNG IL6 TNF
46 autoimmune disease of musculoskeletal system 10.1 IL4 IL6 TNF
47 posterior uveitis 10.1 IFNG IL6 TNF
48 keratoconjunctivitis 10.1 IFNG IL4 TNF
49 hemorrhagic fever 10.1 IFNG IL6 TNF
50 aggressive periodontitis 10.1 IL4 IL6 TNF

Graphical network of the top 20 diseases related to Rasmussen Encephalitis:



Diseases related to Rasmussen Encephalitis

Symptoms & Phenotypes for Rasmussen Encephalitis

MGI Mouse Phenotypes related to Rasmussen Encephalitis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ADK ADORA1 CCK CHRNA7 GAD1 GRIA3
2 growth/size/body region MP:0005378 10.27 ADK BMP6 CHRNA7 GAD1 GRIA3 IFNG
3 mortality/aging MP:0010768 10.22 ADK ADORA1 CHRNA7 GAD1 GRIA3 IFNG
4 homeostasis/metabolism MP:0005376 10.21 ADK ADORA1 CCK CHRNA7 GAD1 IFNG
5 nervous system MP:0003631 10.21 ADK ADORA1 CCK CHRNA7 GAD1 GRIA3
6 digestive/alimentary MP:0005381 10.08 CHRNA7 GAD1 IFNG IL18 IL4 IL6
7 no phenotypic analysis MP:0003012 9.92 CCK CHRNA7 GAD1 GRIA3 IFNG IL4
8 normal MP:0002873 9.86 ADORA1 CHRNA7 GAD1 GSR IFNG IL4
9 reproductive system MP:0005389 9.81 BMP6 CHRNA7 GRIA3 IFNG IL15 IL4
10 respiratory system MP:0005388 9.61 ADK ADORA1 CHRNA7 GAD1 IFNG IL4
11 vision/eye MP:0005391 9.23 ADK CHRNA7 GSR IFNG IL18 IL4

Drugs & Therapeutics for Rasmussen Encephalitis

Drugs for Rasmussen Encephalitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492
2 Calcineurin Inhibitors Phase 2, Phase 3
3 gamma-Globulins Phase 2, Phase 3
4 Immunoglobulins, Intravenous Phase 2, Phase 3
5 Immunologic Factors Phase 2, Phase 3,Phase 1
6 Immunosuppressive Agents Phase 2, Phase 3
7 Antibodies Phase 2, Phase 3
8 Rho(D) Immune Globulin Phase 2, Phase 3
9 Immunoglobulins Phase 2, Phase 3
10
rituximab Approved Phase 1 174722-31-7 10201696
11 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Tacrolimus and I.V.-Immunoglobulins in Rasmussen Encephalitis Unknown status NCT00545493 Phase 2, Phase 3 Tacrolimus;i.v. immunoglobulins
2 A Pilot Study of the Use of Rituximab in the Treatment of Chronic Focal Encephalitis Completed NCT00259805 Phase 1 Rituximab

Search NIH Clinical Center for Rasmussen Encephalitis

Genetic Tests for Rasmussen Encephalitis

Anatomical Context for Rasmussen Encephalitis

MalaCards organs/tissues related to Rasmussen Encephalitis:

41
Brain, T Cells, Lung, Bone, Heart, Eye, Pancreas

Publications for Rasmussen Encephalitis

Articles related to Rasmussen Encephalitis:

(show top 50) (show all 229)
# Title Authors Year
1
Phenotypic and functional complexity of brain-infiltrating T cells in Rasmussen encephalitis. ( 29259996 )
2018
2
Adult-onset Rasmussen encephalitis treated with mitoxantrone. ( 30403325 )
2018
3
Detection of EBV and HHV6 in the Brain Tissue of Patients with Rasmussen's Encephalitis. ( 30374827 )
2018
4
Proliferative hippocampal activity in a group of patients with Rasmussen's encephalitis: Neuronal, glial, and BDNF tissue expression correlations. ( 29579552 )
2018
5
Blocking immune intrusion into the brain suppresses epilepsy in Rasmussen's encephalitis model. ( 29629901 )
2018
6
Humanized mouse model of Rasmussen's encephalitis supports the immune-mediated hypothesis. ( 29629902 )
2018
7
Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen Encephalitis. ( 28789481 )
2017
8
Rasmussen Encephalitis. ( 28042372 )
2017
9
Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia. ( 29258971 )
2017
10
Refractory status epilepticus secondary to atypical Rasmussen encephalitis successfully managed with aggressive immunotherapy. ( 29849226 )
2017
11
Late-onset Rasmussen Encephalitis: A literature appraisal. ( 28572051 )
2017
12
Functional Hemispherectomy for Adult Rasmussen Encephalitis: A Case Report and Literature Review. ( 29091250 )
2017
13
Alemtuzumab and intrathecal methotrexate failed in the therapy of Rasmussen encephalitis. ( 28534039 )
2017
14
Trapped ipsilateral lateral ventricle: a delayed complication of hemispherotomy for Rasmussen's encephalitis. ( 29054955 )
2017
15
Elevated expression of EBV and TLRs in the brain is associated with Rasmussen's encephalitis. ( 29116594 )
2017
16
A Case Series of Adult-Onset Rasmussen's Encephalitis: Diagnostic and Therapeutic Challenges. ( 29118737 )
2017
17
Expression of human cytomegalovirus components in the brain tissues of patients with Rasmussen's encephalitis. ( 28303446 )
2017
18
Timing and type of hemispherectomy for Rasmussen's encephalitis: Analysis of 45 patients. ( 28399506 )
2017
19
Can head trauma trigger adult-onset Rasmussen's encephalitis? ( 28732255 )
2017
20
Epileptic spikes in Rasmussen's encephalitis: Migratory pattern and short-term evolution. A MEG study. ( 28826020 )
2017
21
Transcranial direct current stimulation improves seizure control in patients with Rasmussen encephalitis. ( 26842560 )
2016
22
Late onset Rasmussen encephalitis: complete remission after one session of plasmapheresis. ( 26918748 )
2016
23
Evidence for Resident Memory T Cells in Rasmussen Encephalitis. ( 26941743 )
2016
24
Absence of seizures in Rasmussen encephalitis with active inflammation. ( 26775150 )
2016
25
Teaching NeuroImages: Radiographic progression in late-onset Rasmussen encephalitis. ( 27597560 )
2016
26
Rasmussen encephalitis tissue transfer program. ( 27286752 )
2016
27
Shared HLA Class I and II Alleles and Clonally Restricted Public and Private Brain-Infiltrating I+I^ T Cells in a Cohort of Rasmussen Encephalitis Surgery Patients. ( 28066418 )
2016
28
Evidence for Resident Memory T cells in Rasmussen Encephalitis. ( 27397698 )
2016
29
CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing. ( 27040081 )
2016
30
FreeSurfer is useful for early detection of Rasmussen's encephalitis prior to obvious atrophy. ( 26174006 )
2016
31
Clinical, electrophysiological, imaging, pathological and therapeutic observations among 18 patients with Rasmussen's encephalitis. ( 26675623 )
2016
32
Rasmussen's encephalitis: advances in management and patient outcomes. ( 26780781 )
2016
33
Antibodies to AMPA receptors in Rasmussen's encephalitis. ( 26785913 )
2016
34
Rasmussen's Encephalitis with Faciobrachial Dystonic Attacks and Bilateral Hemispheric Involvement. ( 26831002 )
2016
35
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study. ( 27106864 )
2016
36
Elevated expression of human papillomavirus antigen in brain tissue of patients with Rasmussen's encephalitis. ( 27490897 )
2016
37
Adult onset Rasmussen's encephalitis associated with reflex language induced seizures responsive to Rituximab therapy. ( 27771212 )
2016
38
Language recovery after left hemispherotomy for Rasmussen encephalitis. ( 26519666 )
2015
39
The dilemma of adult-onset Rasmussen encephalitis clinical assessment: Proposal for a new bedside tool to evaluate disease progression. ( 25960424 )
2015
40
Crossed Cerebellar Diaschisis Due to Rasmussen Encephalitis. ( 26105956 )
2015
41
In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. ( 25438677 )
2015
42
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 26082956 )
2015
43
Teaching NeuroImages: Diffusion tensor tractography of cortico-ponto-cerebellar pathways in Rasmussen encephalitis. ( 26170405 )
2015
44
Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. ( 26445726 )
2015
45
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 25901061 )
2015
46
Evidence for the involvement of gamma delta T cells in the immune response in Rasmussen encephalitis. ( 26186920 )
2015
47
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis. ( 25738166 )
2015
48
Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review. ( 26033376 )
2015
49
Rethinking the Magnetic Resonance Imaging Findings inA EarlyA Rasmussen Encephalitis: A Case Report and Review ofA theA Literature. ( 27004940 )
2015
50
Rasmussen's encephalitis: A case report. ( 25870657 )
2015

Variations for Rasmussen Encephalitis

Expression for Rasmussen Encephalitis

Search GEO for disease gene expression data for Rasmussen Encephalitis.

Pathways for Rasmussen Encephalitis

Pathways related to Rasmussen Encephalitis according to KEGG:

37
# Name Kegg Source Accession
1 T cell receptor signaling pathway hsa04660

Pathways related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 GAD1 GZMB IFNG IL15 IL18 IL4
2
Show member pathways
12.73 HMGB1 IFNG IL18 IL6 TNF
3
Show member pathways
12.72 IFNG IL15 IL18 IL4 IL6 TNF
4
Show member pathways
12.54 IFNG IL18 IL4 IL6 TNF
5
Show member pathways
12.47 GZMB IFNG IL4 TNF
6
Show member pathways
12.39 IFNG IL4 IL6 TNF
7
Show member pathways
12.36 IFNG IL15 IL4 IL6
8
Show member pathways
12.3 IFNG IL4 IL6 TNF
9
Show member pathways
12.28 GSR IFNG IL4 IL6 TNF
10 12.2 IFNG IL18 IL6 TNF
11
Show member pathways
12.14 IFNG IL4 IL6 TNF
12 12.13 CHRNA7 IL6 SST TNF
13
Show member pathways
12.12 BMP6 IFNG IL15 IL18 IL4 IL6
14
Show member pathways
12.03 BMP6 IFNG IL15 IL18 IL4 IL6
15
Show member pathways
12.01 IFNG IL18 IL6 TNF
16 11.96 IFNG IL4 IL6 TNF
17 11.96 IFNG IL15 IL4 IL6 TNF
18 11.93 IL18 IL4 IL6 TNF
19
Show member pathways
11.92 GZMB IFNG IL18 IL4
20
Show member pathways
11.9 ADORA1 HMGB1 IFNG IL4 IL6 TNF
21 11.85 IL4 IL6 TNF
22 11.85 IFNG IL6 TNF
23 11.8 IFNG IL18 IL6
24 11.79 IFNG IL15 IL18 IL6 TNF
25 11.78 BMP6 IFNG TNF
26 11.77 IFNG IL4 IL6
27
Show member pathways
11.73 IFNG IL4 TNF
28 11.71 IFNG IL6 TNF
29 11.64 GZMB IFNG IL15 IL18 IL4 TNF
30 11.63 IL4 IL6 TNF
31
Show member pathways
11.63 IFNG IL6 TNF
32
Show member pathways
11.61 GZMB IFNG TNF
33 11.56 IL18 IL6 TNF
34 11.52 IFNG IL6 TNF
35 11.52 IL18 IL4 IL6 TNF
36 11.5 IFNG IL18 IL6 TNF
37 11.49 HMGB1 IL6 TNF
38 11.49 IFNG IL18 TNF
39 11.44 IFNG IL6 TNF
40 11.32 IFNG IL18 IL6 TNF
41 11.28 IFNG IL15 IL18 IL4 IL6 TNF
42 11.11 BMP6 IL15 IL18 IL4 IL6 TNF
43 11.02 IFNG IL15 IL4 IL6 TNF
44 10.97 BMP6 IL15 IL18 IL4 IL6 TNF
45 10.61 IFNG IL15 IL18 IL4 IL6 TNF

GO Terms for Rasmussen Encephalitis

Cellular components related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 BMP6 CCK HMGB1 IFNG IL15 IL18
2 extracellular space GO:0005615 9.32 BMP6 CCK HMGB1 IFNG IL15 IL18
3 voltage-gated sodium channel complex GO:0001518 9.16 SCN1A SCN2B

Biological processes related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 IFNG IL18 IL4 IL6 TNF
2 cytokine-mediated signaling pathway GO:0019221 9.93 IL18 IL4 IL6 TNF
3 chemical synaptic transmission GO:0007268 9.92 CHRNA7 GAD1 SCN2B SST
4 cell-cell signaling GO:0007267 9.91 ADORA1 IL15 IL18 SST
5 positive regulation of cell proliferation GO:0008284 9.91 BMP6 CCK CHRNA7 IFNG IL15 IL6
6 immune response GO:0006955 9.87 BMP6 IFNG IL15 IL18 IL4 IL6
7 positive regulation of protein phosphorylation GO:0001934 9.83 CHRNA7 HMGB1 IFNG TNF
8 positive regulation of inflammatory response GO:0050729 9.79 IL15 IL18 TNF
9 excitatory postsynaptic potential GO:0060079 9.77 ADORA1 CHRNA7 GRIA3
10 positive regulation of T cell proliferation GO:0042102 9.77 IL15 IL4 IL6
11 positive regulation of interleukin-6 production GO:0032755 9.74 HMGB1 IL6 TNF
12 humoral immune response GO:0006959 9.73 IFNG IL6 TNF
13 positive regulation of smooth muscle cell proliferation GO:0048661 9.72 IL18 IL6 TNF
14 inflammatory response GO:0006954 9.7 ADORA1 BMP6 HMGB1 IL15 IL18 IL6
15 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.69 HMGB1 IL18 TNF
16 cognition GO:0050890 9.67 ADORA1 CHRNA7 TNF
17 response to glucocorticoid GO:0051384 9.67 BMP6 HMGB1 IL6 TNF
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.64 SCN1A SCN2B
19 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 IFNG TNF
20 positive regulation of interleukin-17 production GO:0032740 9.63 IL15 IL18
21 negative regulation of lipid storage GO:0010888 9.61 IL6 TNF
22 positive regulation of natural killer cell proliferation GO:0032819 9.58 IL15 IL18
23 positive regulation of tissue remodeling GO:0034105 9.54 IL15 IL18
24 type 2 immune response GO:0042092 9.48 IL18 IL4
25 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 IFNG TNF
26 positive regulation of neuroinflammatory response GO:0150078 9.43 IL18 IL6 TNF
27 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 IFNG TNF
28 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.35 IFNG IL15 IL18 IL4 IL6
29 regulation of signaling receptor activity GO:0010469 9.32 BMP6 CCK HMGB1 IFNG IL15 IL18

Molecular functions related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.23 BMP6 HMGB1 IFNG IL15 IL18 IL4

Sources for Rasmussen Encephalitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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