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General Information
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| Term |
myoclonic-atonic epilepsy |
ID (Ontology) |
DOID:0060475 (Human Disease) |
| 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. |
| Also Known As |
"childhood onset epileptic encephalopathy" ; "EEOC" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 4 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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myoclonic-atonic epilepsy | 4 | 10 | 1 | for disease ribbon | myoclonic-atonic epilepsy | -- | 8 | -- | model of | myoclonic-atonic epilepsy | 4 | 8 | -- |
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Relationships