rasmussen encephalitis |
Disease ID | 1964 |
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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 |
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Disease | rasmussen encephalitis |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
Disease ID | 1964 |
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Disease | rasmussen encephalitis |
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