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Human Disease

pyridoxine-dependent epilepsy

Term ID
DOID:0080768
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 )
Relationships
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Genes Involved
Zebrafish Models