Myoclonic-Atonic Epilepsy
Disease ID: disease_node_13395
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| Dbxref | MIM:616421 |
|---|---|
| Subclassof | DOID_0050736, DOID_1827 |
| Data Source | DOID |
| Synonyms | EEOC, childhood onset epileptic encephalopathy |
| Doid Label | myoclonic-atonic epilepsy |
| Doid Description | 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 | HP_0011463 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13395 |
| Doid Id | DOID_0060475 |
| Label | Myoclonic-Atonic Epilepsy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Epilepsy, Generalized(ID:disease_node_2978) (Disease)