OBO ID: DOID:0080769
Term Name: early-onset vitamin B6-dependent epilepsy Search Ontology:
Synonyms:
Definition: An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. https://pubmed.ncbi.nlm.nih.gov/27912044/
References:
Ontology: Human Disease   (DOID:0080769)
OTHER early-onset vitamin B6-dependent epilepsy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLPBP Epilepsy, early-onset, vitamin B6-dependent 617290
ZEBRAFISH MODELS
Fish Conditions Citations
plpbpot101/+; plpbpot102/+ standard conditions Johnstone et al., 2019
PHENOTYPE No data available

CITATIONS (1)