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Pediatric Disease Annotations & Medicines



   rasmussen encephalitis
  

Disease ID 1964
Disease rasmussen encephalitis
Definition
Typically, affected individuals develop focal seizures that may progress to near continuous seizures termed epilepsia partialis continua (EPC). EPC is characterized by a rapid, rhythmic succession of contractions and relaxations of a muscle or muscle group (myoclonus), particularly of the arms, legs, and face, that may occur singularly or in a repetitive, continuous series. In Rasmussen this occurs consistently on one side of the body.In most cases, affected children will exhibit progressive paralysis of one side of the body (hemiparesis) and if the seizures continue developmental disabilities. In many cases, the development of physical and mental abilities of affected children may cease (developmental arrest). In addition, affected children may lose previously acquired physical and mental abilities (developmental regression). In some cases, affected children may exhibit degeneration (atrophy) of one side of the brain and/or progressive confusion, disorientation, and deterioration of intellectual abilities (dementia). - NORD
Reference: NORD
Synonym
enceph rasmussen
encephalitis rasmussens
encephalitis, rasmussen
rasmussen enceph
rasmussen syndrome
rasmussen syndrome (disorder)
rasmussen's syndrome
OMIM
UMLS
C0393484
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:4)
C0014544  |  epileptic seizure  |  1
C0014544  |  epilepsy  |  1
C0014038  |  encephalitis  |  1
C0014544  |  epileptic seizures  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1964
Disease rasmussen encephalitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
HP:0002539  |  Cortical dysplasia  |  2
HP:0002383  |  Encephalitis  |  1
HP:0001250  |  Seizures  |  1
Disease ID 1964
Disease rasmussen encephalitis
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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