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Pyridoxine-dependent epilepsy

What is Pyridoxine-dependent epilepsy?

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).

Other condition names

  • Antiquitin deficiency
  • Vitamin B6-dependent seizures

Inheritance type

Autosomal recessive

Age of Onset

  • Antenatal
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.