OBO ID: DOID:0111452
Term Name: progressive myoclonus epilepsy 1A Search Ontology:
Synonyms:
  • EPM1A
Definition: An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/8596935
References:
Ontology: Human Disease   (DOID:0111452)
OTHER progressive myoclonus epilepsy 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CSTB Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None