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Pyridoxine-dependent epilepsy

Synonym(s) Glutamate decarboxylase deficiency
Pyridoxine-responsive seizures
Vitamin B6-responsive seizures
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • G40.8
  • C1291560
  • C1849508
  • C536254
MedDRA -


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

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Clinical genetics review
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