Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy
Definition
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).
Also known as antiquitin deficiency, pyridoxine-dependent epilepsy, vitamin B6-dependent seizures — per MONDO