Піридоксинзалежна епілепсія
ORPHA:3006· ICD-10 G40.8· Pyridoxine-dependent-developmental and epileptic encephalopathy
Визначення(English summary)
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).
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal