loading...| Preferred Name | Dravet syndrome | |
| Synonyms |
myoclonic epilepsy, severe, of infancy SME Dravet syndrome DS |
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| Definitions |
Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100135 |
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| creator | ||
| database_cross_reference |
UMLS:C0751122 ICD9:345.10 SCTID:230437002 DOID:0080422 NANDO:1200587 NCIT:C116573 MEDGEN:148243 NANDO:2200877 DOID:0060171 GARD:10430 NORD:1061 |
|
| definition |
Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. |
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| disease shares features of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C116573 http://linkedlifedata.com/resource/umls/id/C0751122 http://identifiers.org/medgen/148243 |
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| has_exact_synonym |
Dravet syndrome DS |
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| has_related_synonym |
myoclonic epilepsy, severe, of infancy SME |
|
| id |
MONDO:0100135 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
|
| label |
Dravet syndrome |
|
| notation |
MONDO:0100135 |
|
| preferred label |
Dravet syndrome |
|
| prefLabel |
Dravet syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome https://www.epilepsydiagnosis.org/syndrome/dravet-overview.html |
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| subClassOf |