OBO ID: DOID:0111451 |
Term Name: | progressive myoclonus epilepsy 8 | Search Ontology: | |
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Synonyms: |
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Definition: | A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (2) | ||
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Ontology: | Human Disease ( DOID:0111451 ) |
OTHER progressive myoclonus epilepsy 8 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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CERS1 | Epilepsy, progressive myoclonic, 8 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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