OBO ID: DOID:0111448
Term Name: progressive myoclonus epilepsy 1B Search Ontology:
Synonyms:
  • EPM1B
Definition: An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12. https://www.ncbi.nlm.nih.gov/pubmed/18976727
References:
Ontology: Human Disease   (DOID:0111448)
OTHER progressive myoclonus epilepsy 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRICKLE1 Epilepsy, progressive myoclonic 1B 612437
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None