OBO ID: DOID:0080769
Term Name: early-onset vitamin B6-dependent epilepsy 1 Search Ontology:
Synonyms:
  • early-onset vitamin B6-dependent epilepsy
  • EPEO1
  • PDE-PLPBP
Definition: A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (3)
References:
Ontology: Human Disease   ( DOID:0080769 )
Relationships
is a type of:
OTHER early-onset vitamin B6-dependent epilepsy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLPBP Epilepsy, early-onset, 1, vitamin B6-dependent 617290
ZEBRAFISH MODELS
Fish Conditions Citations
plpbpot101/+; plpbpot102/+ standard conditions Johnstone et al., 2019
PHENOTYPE No data available

CITATIONS (1)
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.