RE
MCID: RSM001
MIFTS: 43

Rasmussen Encephalitis (RE) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Rasmussen Encephalitis

Aliases & Descriptions for Rasmussen Encephalitis:

Name: Rasmussen Encephalitis 50 52
Rasmussen's Encephalitis 51
Rasmussen Syndrome 69
Re 50

Classifications:



Summaries for Rasmussen Encephalitis

NINDS : 51 Rasmussen’s encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain.  It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and 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.  Most individuals with Rasmussen’s encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits.  Rasmussen’s encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage. Research is ongoing into the causes of this rare disease.

MalaCards based summary : Rasmussen Encephalitis, also known as rasmussen's encephalitis, is related to status epilepticus 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 Allograft rejection and Influenza A. The drugs Tacrolimus and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include brain and t cells, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 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. last updated: 3/22/2012

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 145)
id Related Disease Score Top Affiliating Genes
1 status epilepticus 29.9 IFNG IL4 TNF
2 encephalitis 10.8
3 myoglobinuria recurrent 10.3 IFNG IL4
4 vps11-related autosomal recessive hypomyelinating leukodystrophy 10.3 IL6 TNF
5 tubular renal disease-cardiomyopathy syndrome 10.3 IL4 TNF
6 asymptomatic neurosyphilis 10.2 IFNG IL4
7 immune-complex glomerulonephritis 10.2 IFNG IL4 IL6
8 mikulicz disease 10.2 IL4 IL6 TNF
9 gonococcal endophthalmia 10.2 IL4 IL6 TNF
10 gastroschisis abdominal wall defects, included 10.2 BMP6 IFNG
11 autosomal recessive type iv ehlers-danlos syndrome 10.2 IL4 IL6 TNF
12 esophagus lymphoma 10.2 IFNG IL6 TNF
13 cyclosporiasis 10.2 IFNG IL6 TNF
14 tuberculosis 10.2 IL4 IL6 TNF
15 conduct disorder 10.2 IFNG IL6 TNF
16 pancreatic signet ring cell adenocarcinoma 10.2 IFNG IL6 TNF
17 autosomal dominant deafness-onychodystrophy syndrome 10.2 IFNG IL4 TNF
18 hereditary alpha tryptasemia syndrome 10.2 IFNG IL6 TNF
19 thyroid hyalinizing trabecular adenoma 10.2 IFNG IL4 IL6
20 hepatitis 10.2 IFNG IL6 TNF
21 erb-duchenne and dejerine-klumpke palsies 10.2 IFNG IL6 TNF
22 urethral intrinsic sphincter deficiency 10.2 IFNG IL4 TNF
23 plummer's disease 10.2 IFNG IL6 TNF
24 hypotrichosis 4 10.2 IFNG IL4 TNF
25 osteodysplasty precocious of danks mayne and kozlowski 10.2 IFNG IL4 TNF
26 neurotic disorder 10.2 IFNG IL4 TNF
27 disease of mental health 10.2 IFNG IL6 TNF
28 follicular adenoma 10.2 IFNG IL6 TNF
29 rift valley fever 10.2 IFNG IL6 TNF
30 tularemia 10.2 IFNG IL4 TNF
31 oral cavity cancer 10.2 IFNG IL4 TNF
32 depressed scar 10.2 IFNG IL6 TNF
33 colon adenocarcinoma 10.2 IL4 IL6 TNF
34 mansonelliasis 10.2 IFNG IL6 TNF
35 abnormal retinal correspondence 10.2 IFNG IL4 TNF
36 transient tic disorder 10.2 BMP6 IL6 TNF
37 motor peripheral neuropathy 10.2 IFNG IL4 TNF
38 hereditary night blindness 10.2 BMP6 IL6 TNF
39 classic type lipoma 10.2 IFNG IL6 TNF
40 infantile hypotonia 10.2 CCK SCN1A TNF
41 tracheitis 10.2 IFNG IL4 TNF
42 lagophthalmos 10.2 IL4 TNF
43 anterior foramen magnum meningioma 10.2 IFNG IL6 TNF
44 balkan nephropathy 10.2 IFNG IL4 TNF
45 vulvar nodular hidradenoma 10.2 IFNG IL6 TNF
46 steroid dehydrogenase deficiency dental anomalies 10.2 IL18 IL6 TNF
47 acquired thrombocytopenia 10.1 IL18 IL6 TNF
48 usher syndrome, type 2a 10.1 IFNG IL18 IL6
49 dengue hemorrhagic fever 10.1 IFNG IL4 TNF
50 benign neonatal seizures 10.1 IL18 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:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ADK CCK CHRNA7 GAD1 GRIA3 IFNG
2 growth/size/body region MP:0005378 10.27 BMP6 CHRNA7 GAD1 GRIA3 IFNG IL15
3 mortality/aging MP:0010768 10.18 ADK CHRNA7 GAD1 GRIA3 IFNG IL15
4 nervous system MP:0003631 10.18 ADK CCK CHRNA7 GAD1 GRIA3 IFNG
5 homeostasis/metabolism MP:0005376 10.17 ADK CCK CHRNA7 GAD1 IFNG IL18
6 digestive/alimentary MP:0005381 10.1 CHRNA7 GAD1 IFNG IL18 IL4 IL6
7 endocrine/exocrine gland MP:0005379 10.08 CCK CHRNA7 GAD1 IFNG IL15 IL4
8 no phenotypic analysis MP:0003012 9.92 CCK CHRNA7 GAD1 GRIA3 IFNG IL4
9 reproductive system MP:0005389 9.91 SCN1A TNF CHRNA7 GRIA3 IFNG IL15
10 respiratory system MP:0005388 9.7 TNF ADK CHRNA7 GAD1 IFNG IL4
11 skeleton MP:0005390 9.56 BMP6 CHRNA7 GAD1 IFNG IL4 IL6
12 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 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492
2 Immunoglobulins Phase 2, Phase 3
3 gamma-Globulins Phase 2, Phase 3
4 Immunoglobulins, Intravenous Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6 Rho(D) Immune Globulin Phase 2, Phase 3
7 Antibodies Phase 2, Phase 3
8 Calcineurin Inhibitors Phase 2, Phase 3
9
rituximab Approved Phase 1 174722-31-7 10201696
10 Antirheumatic Agents Phase 1

Interventional clinical trials:


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

Search NIH Clinical Center for Rasmussen Encephalitis

Genetic Tests for Rasmussen Encephalitis

Anatomical Context for Rasmussen Encephalitis

MalaCards organs/tissues related to Rasmussen Encephalitis:

39
Brain, T Cells

Publications for Rasmussen Encephalitis

Articles related to Rasmussen Encephalitis:

(show top 50) (show all 99)
id Title Authors Year
1
Rasmussen Encephalitis. ( 28042372 )
2017
2
Rasmussen encephalitis tissue transfer program. ( 27286752 )
2016
3
Evidence for Resident Memory T Cells in Rasmussen Encephalitis. ( 26941743 )
2016
4
Teaching NeuroImages: Radiographic progression in late-onset Rasmussen encephalitis. ( 27597560 )
2016
5
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
6
Late onset Rasmussen encephalitis: complete remission after one session of plasmapheresis. ( 26918748 )
2016
7
Evidence for Resident Memory T cells in Rasmussen Encephalitis. ( 27397698 )
2016
8
CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing. ( 27040081 )
2016
9
Absence of seizures in Rasmussen encephalitis with active inflammation. ( 26775150 )
2016
10
Transcranial direct current stimulation improves seizure control in patients with Rasmussen encephalitis. ( 26842560 )
2016
11
Rethinking the Magnetic Resonance Imaging Findings inA EarlyA Rasmussen Encephalitis: A Case Report and Review ofA theA Literature. ( 27004940 )
2015
12
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 26082956 )
2015
13
Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review. ( 26033376 )
2015
14
Crossed Cerebellar Diaschisis Due to Rasmussen Encephalitis. ( 26105956 )
2015
15
Teaching NeuroImages: Diffusion tensor tractography of cortico-ponto-cerebellar pathways in Rasmussen encephalitis. ( 26170405 )
2015
16
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis. ( 25738166 )
2015
17
In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. ( 25438677 )
2015
18
Language recovery after left hemispherotomy for Rasmussen encephalitis. ( 26519666 )
2015
19
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 25901061 )
2015
20
Evidence for the involvement of gamma delta T cells in the immune response in Rasmussen encephalitis. ( 26186920 )
2015
21
The dilemma of adult-onset Rasmussen encephalitis clinical assessment: Proposal for a new bedside tool to evaluate disease progression. ( 25960424 )
2015
22
Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. ( 26445726 )
2015
23
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. ( 25209083 )
2014
24
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 25142901 )
2014
25
A case of rasmussen encephalitis: the differential diagnoses and role of diagnostic imaging. ( 24498485 )
2014
26
Rasmussen encephalitis: an unusual cause for intractable seizures in elderly. ( 24045872 )
2014
27
Surgical treatment of patients with Rasmussen encephalitis. ( 24503650 )
2014
28
Voltage-gated potassium channels autoantibodies in a child with rasmussen encephalitis. ( 25062271 )
2014
29
Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients. ( 24815913 )
2014
30
Editorial comment: The janus of Rasmussen encephalitis: never a friendly face. ( 25149948 )
2014
31
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). ( 24639375 )
2014
32
Long-term outcome after limited cortical resections in two cases of adult-onset Rasmussen encephalitis. ( 24702622 )
2014
33
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis. ( 24471481 )
2014
34
A role for the CXCR3/CXCL10 axis in Rasmussen encephalitis. ( 24080276 )
2013
35
Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. ( 23216622 )
2013
36
Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. ( 23360283 )
2013
37
Upregulation of adenosine kinase in Rasmussen encephalitis. ( 24128682 )
2013
38
Rasmussen encephalitis. ( 23622199 )
2013
39
Differential expression of interferon-I^ and chemokine genes distinguishes Rasmussen encephalitis from cortical dysplasia and provides evidence for an early Th1 immune response. ( 23639073 )
2013
40
Hemiatrophy and seizures: a case of adult-onset Rasmussen encephalitis. ( 23315464 )
2013
41
Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. ( 23980696 )
2013
42
Clinico-pathological investigations of Rasmussen encephalitis suggest multifocal disease progression and associated focal cortical dysplasia. ( 23531608 )
2013
43
Rasmussen encephalitis treated with natalizumab. ( 23794679 )
2013
44
Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. ( 22309137 )
2012
45
Intimal thickening of meningeal arteries after serial corticectomies for Rasmussen encephalitis. ( 22401768 )
2012
46
Bilateral Rasmussen encephalitis. ( 21216675 )
2011
47
Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features. ( 19555404 )
2011
48
Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms. ( 21896424 )
2011
49
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. ( 21885203 )
2011
50
Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma. ( 19615863 )
2009

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 GeneCards Suite gene sharing:

(show all 45)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 GAD1 GZMB IFNG IL15 IL4 IL6
2
Show member pathways
12.72 IFNG IL15 IL18 IL4 IL6 TNF
3
Show member pathways
12.53 IFNG IL18 IL4 IL6 TNF
4 12.49 GZMB IFNG IL4 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
12.29 IFNG IL4 IL6 TNF
8
Show member pathways
12.25 GSR IFNG IL4 IL6 TNF
9 12.19 IFNG IL18 IL6 TNF
10
Show member pathways
12.16 IFNG IL15 IL4 IL6
11
Show member pathways
12.13 IFNG IL4 IL6 TNF
12 12.12 CHRNA7 IL6 SST TNF
13 11.96 IFNG IL4 IL6 TNF
14
Show member pathways
11.94 IFNG IL15 IL18 IL4 IL6 TNF
15 11.93 IL18 IL4 IL6 TNF
16
Show member pathways
11.92 GZMB IFNG IL18 IL4
17 11.9 IL15 IL6 TNF
18 11.9 IFNG IL15 IL4 IL6 TNF
19
Show member pathways
11.89 IFNG IL18 IL6 TNF
20 11.85 IL4 IL6 TNF
21
Show member pathways
11.85 GZMB IFNG IL4 IL6
22 11.84 IFNG IL6 TNF
23 11.79 IFNG IL18 IL6
24 11.77 BMP6 IFNG TNF
25 11.76 IFNG IL4 IL6
26
Show member pathways
11.72 IFNG IL4 TNF
27 11.72 IFNG IL6 TNF
28 11.72 IFNG IL15 IL18 IL6 TNF
29 11.68 IL4 IL6 TNF
30 11.63 IL4 IL6 TNF
31
Show member pathways
11.62 IFNG IL6 TNF
32
Show member pathways
11.6 GZMB IFNG TNF
33 11.55 IL18 IL6 TNF
34 11.51 IFNG IL6 TNF
35 11.5 IL18 IL4 IL6 TNF
36 11.49 IFNG IL18 IL6 TNF
37 11.47 IFNG IL18 TNF
38 11.43 IFNG IL6 TNF
39
Show member pathways
11.36 GZMB IFNG IL15 TNF
40 11.34 GZMB IFNG IL15 IL18 IL4 TNF
41 11.25 IFNG IL18 IL6 TNF
42 11.03 BMP6 IL15 IL18 IL4 IL6 TNF
43 11.03 IFNG IL15 IL4 IL6 TNF
44 10.86 IL4 IL6
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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 BMP6 CCK IFNG IL15 IL18 IL4
2 external side of plasma membrane GO:0009897 9.35 GSR IFNG IL4 IL6 TNF
3 voltage-gated sodium channel complex GO:0001518 9.32 SCN1A SCN2B
4 extracellular space GO:0005615 9.28 BMP6 CCK IFNG IL15 IL18 IL4
5 axon initial segment GO:0043194 9.26 CCK SCN1A

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

(show all 39)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.96 BMP6 IL15 IL18 IL6 TNF
2 response to drug GO:0042493 9.89 GAD1 IFNG IL4 IL6 SST
3 positive regulation of cell proliferation GO:0008284 9.85 CCK CHRNA7 IFNG IL15 IL4 IL6
4 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.84 IL4 IL6 TNF
5 positive regulation of protein phosphorylation GO:0001934 9.84 CHRNA7 IFNG IL4 TNF
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.83 CCK IL4 IL6
7 positive regulation of neuron differentiation GO:0045666 9.82 BMP6 IFNG IL6
8 positive regulation of protein kinase B signaling GO:0051897 9.82 IL18 IL6 TNF
9 response to glucocorticoid GO:0051384 9.81 BMP6 IL6 TNF
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.77 IL18 IL6 TNF
11 humoral immune response GO:0006959 9.77 IFNG IL6 TNF
12 regulation of postsynaptic membrane potential GO:0060078 9.72 CHRNA7 SCN1A SCN2B
13 positive regulation of nitric oxide biosynthetic process GO:0045429 9.69 IFNG IL6 TNF
14 positive regulation of chemokine production GO:0032722 9.68 IL6 TNF
15 negative regulation of growth of symbiont in host GO:0044130 9.68 IFNG TNF
16 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.67 IFNG TNF
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 SCN1A SCN2B
18 positive regulation of interleukin-17 production GO:0032740 9.66 IL15 IL18
19 positive regulation of protein import into nucleus, translocation GO:0033160 9.65 IFNG IL6
20 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.65 IL15 IL18 IL6
21 positive regulation of isotype switching to IgG isotypes GO:0048304 9.64 IFNG IL4
22 negative regulation of lipid storage GO:0010888 9.63 IL6 TNF
23 positive regulation of T-helper 2 cell differentiation GO:0045630 9.62 IL18 IL6
24 regulation of defense response to virus by host GO:0050691 9.62 IFNG IL15
25 positive regulation of MHC class II biosynthetic process GO:0045348 9.61 IFNG IL4
26 positive regulation of natural killer cell proliferation GO:0032819 9.61 IL15 IL18
27 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.58 IL6 TNF
28 type 2 immune response GO:0042092 9.58 IL18 IL4
29 positive regulation of tissue remodeling GO:0034105 9.57 IL15 IL18
30 positive regulation of T cell proliferation GO:0042102 9.56 IFNG IL15 IL4 IL6
31 positive regulation of mononuclear cell migration GO:0071677 9.52 IL4 TNF
32 defense response to protozoan GO:0042832 9.5 IFNG IL4 IL6
33 neutrophil apoptotic process GO:0001781 9.46 IFNG IL6
34 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 IFNG TNF
35 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 IFNG TNF
36 positive regulation of chemokine biosynthetic process GO:0045080 9.33 IFNG IL4 TNF
37 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.26 IFNG IL18 IL4 IL6
38 immune response GO:0006955 9.17 BMP6 IFNG IL15 IL18 IL4 IL6
39 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.14 BMP6 IFNG IL18 IL4 IL6 TNF

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.17 BMP6 IFNG IL15 IL18 IL4 IL6

Sources for Rasmussen Encephalitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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