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| Term | progressive myoclonus epilepsy 7 | ID (Ontology) | DOID:0111447 (Human Disease) |
| Definition | A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. | ||
| Also Known As | "EPM7" ; "MEAK" ; "Myoclonus epilepsy and ataxia due to potassium channel mutation" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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variable age at onset electroclinical syndrome |__progressive myoclonus epilepsy__ autosomal genetic disease | |__autosomal dominant disease______| progressive myoclonus epilepsy 7 1 rec. |
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autosomal dominant disease progressive myoclonus epilepsy |
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External Crossreferences & Linkouts
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MIM:616187 NCI:C142804 ORDO:435438 SNOMEDCT_US_2023_03_01:1208939001 UMLS_CUI:C4015420 |
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