loading...| Preferred Name | myoclonic-atonic epilepsy | |
| Synonyms |
EEOC childhood onset epileptic encephalopathy |
|
| Definitions |
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060475 |
|
| created_by |
elvira |
|
| creation_date |
2015-11-19T16:30:12Z |
|
| database_cross_reference |
MIM:616421 |
|
| definition |
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. |
|
| existence starts during | ||
| has exact synonym |
EEOC childhood onset epileptic encephalopathy |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060475 |
|
| label |
myoclonic-atonic epilepsy |
|
| notation |
DOID:0060475 |
|
| prefLabel |
myoclonic-atonic epilepsy |
|
| subClassOf |