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Pyridoxine-dependent epilepsy

Disease definition

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

ORPHA:3006

  • Synonym(s):
    • Antiquitin deficiency
    • Vitamin B6-dependent seizures
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: G40.8
  • OMIM: 266100
  • UMLS: C1291560  C1849508
  • MeSH: C536254
  • GARD: 9298
  • MedDRA: -

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