OBO ID: DOID:0080768
Term Name: pyridoxine-dependent epilepsy Search Ontology:
Synonyms:
Definition: An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (2)
References:
  • GARD:9298
  • MESH:C536254
  • ORDO:3006
  • SNOMEDCT_US_2023_03_01:734434007
  • UMLS_CUI:C1849508
Ontology: Human Disease   ( DOID:0080768 )
OTHER pyridoxine-dependent epilepsy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
aldh7a1zf2074/zf2074 standard conditions (2)
PHENOTYPE No data available

CITATIONS (3)