loading...| Preferred Name | Dravet syndrome | |
| Synonyms |
early infantile epileptic encephalopathy 6 |
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| Definitions |
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080422 |
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| database_cross_reference |
OMIM:607208 GARD:10430 ORDO:33069 |
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| fromILAE |
true |
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| has exact synonym |
early infantile epileptic encephalopathy 6 |
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| has_alternative_id |
DOID:0060171 |
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| has_obo_namespace |
disease_ontology |
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| hasDefinition |
Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behaviour impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases). |
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| id |
DOID:0080422 |
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| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Dravet syndrome |
|
| notation |
DOID:0080422 |
|
| prefLabel |
Dravet syndrome |
|
| 文本定义 |
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
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| subClassOf |