OBO ID: DOID:0111445
Term Name: progressive myoclonus epilepsy 10 Search Ontology:
Synonyms:
  • early-onset Lafora body disease
  • EPM10
Definition: A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/22961547
References:
Ontology: Human Disease   (DOID:0111445)
OTHER progressive myoclonus epilepsy 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRDM8 ?Epilepsy, progressive myoclonic, 10 616640
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None