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General Information
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| Term |
familial adult myoclonic epilepsy 2 |
ID (Ontology) |
DOID:0111692 (Human Disease) |
| Definition |
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. |
| Also Known As |
"ADCME" ; "autosomal dominant cortical myoclonus and epilepsy" ; "BAFME2" (for all, see Synonyms field below) |
| 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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No relevant records available
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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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| Genes |
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familial adult myoclonic epilepsy 2 | 1 | for disease ribbon | familial adult myoclonic epilepsy 2 | 1 | model of | familial adult myoclonic epilepsy 2 | 1 |
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Relationships