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 the PRICKLE1 gene on chromosome 12q12. https://www.ncbi.nlm.nih.gov/pubmed/18976727
References:
Ontology: Human Disease   ( DOID:0111448 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.