Preferred Name | Dravet syndrome | |
Synonyms |
DEE6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 developmental and epileptic encephalopathy 6 DEE6A severe myoclonic epilepsy of infancy |
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Definitions |
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life 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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alternative label |
DEE6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 developmental and epileptic encephalopathy 6 DEE6A severe myoclonic epilepsy of infancy |
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database_cross_reference |
GARD:10430 MIM:607208 ORDO:33069 |
|
definition |
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
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has exact synonym |
DEE6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 developmental and epileptic encephalopathy 6 DEE6A severe myoclonic epilepsy of infancy |
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has material basis in | ||
has_alternative_id |
DOID:0060171 |
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has_obo_namespace |
disease_ontology |
|
id |
DOID:0080422 |
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in_subset | ||
label |
Dravet syndrome |
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notation |
DOID:0080422 |
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prefLabel |
Dravet syndrome |
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subClassOf |