OBO ID: DOID:0111449
Term Name: progressive myoclonus epilepsy 6 Search Ontology:
Synonyms:
  • EPM6
  • GOSR2-related progressive myoclonus ataxia
  • North Sea progressive myoclonus epilepsy
  • PME type 6
  • Progressive myoclonus epilepsy type 6
Definition: A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32. https://www.ncbi.nlm.nih.gov/pubmed/21549339
References:
Ontology: Human Disease   (DOID:0111449)
OTHER progressive myoclonus epilepsy 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GOSR2 Epilepsy, progressive myoclonic 6 614018
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None