Familial Adult Myoclonic Epilepsy 2
Disease ID: disease_node_16287
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| Dbxref | MIM:607876 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111689 |
| Data Source | DOID |
| Synonyms | ADCME, BAFME2, FAME2, FCMTE2, autosomal dominant cortical myoclonus and epilepsy, benign adult familial myoclonic epilepsy 2, familial cortical myoclonic tremor and epilepsy 2 |
| Doid Label | familial adult myoclonic epilepsy 2 |
| Doid Description | A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16287 |
| Doid Id | DOID_0111692 |
| Label | Familial Adult Myoclonic Epilepsy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Adult Myoclonic Epilepsy(ID:disease_node_16282) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)