OBO ID: DOID:0111695 |
Term Name: | familial adult myoclonic epilepsy 3 | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/31664039 | ||
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Ontology: | Human Disease ( DOID:0111695 ) |
OTHER familial adult myoclonic epilepsy 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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