OBO ID: DOID:0111447
Term Name: progressive myoclonus epilepsy 7 Search Ontology:
Synonyms:
  • EPM7
  • MEAK
  • Myoclonus epilepsy and ataxia due to potassium channel mutation
  • PME type 7
  • Progressive myoclonic epilepsy due to KV3.1 deficiency
  • Progressive myoclonus epilepsy type 7
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. https://www.ncbi.nlm.nih.gov/pubmed/25401298
References:
  • NCI:C142804
  • OMIM:616187
  • ORDO:435438
  • SNOMEDCT_US_2023_03_01:1208939001
  • UMLS_CUI:C4015420
Ontology: Human Disease   ( DOID:0111447 )
Relationships
is a type of:
OTHER progressive myoclonus epilepsy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNC1 Epilepsy, progressive myoclonic 7 616187
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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