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. (6)
References:
Ontology: Human Disease   (DOID:0080768)
OTHER pyridoxine-dependent epilepsy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH7A1 Epilepsy, pyridoxine-dependent 266100
ZEBRAFISH MODELS
Fish Conditions Citations
aldh7a1zf2074/zf2074 standard conditions Zabinyakov et al., 2017
PHENOTYPE No data available

CITATIONS (1)