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General Information
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| Term |
familial adult myoclonic epilepsy 3 |
ID (Ontology) |
DOID:0111695 (Human Disease) |
| Definition |
A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. |
| Also Known As |
"FAME3" ; "familial cortical myoclonic tremor and epilepsy 3" ; "FCMTE3" |
| 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 3 | 1 | for disease ribbon | familial adult myoclonic epilepsy 3 | 1 | model of | familial adult myoclonic epilepsy 3 | 1 |
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Relationships