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).
MONDO:0019237
inborn disorder of pyridoxine metabolism
is_a
MONDO:0100033
metabolic epilepsy
is_a
MONDO:0100545
hereditary neurological disease
is_a
EPD
related
antiquitin deficiency
exact
epilepsy, pyridoxine-dependent
related
pyridoxine dependency
related
pyridoxine-dependent epilepsy
exact
vitamin B6-dependent seizures
exact
SPAC644.09