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pyridoxine-dependent epilepsy

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Pyridoxine-dependent epilepsy (PDE) is 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).
Uniprot Description Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
Mondo Term and Equivalent IDs
MONDO:0009945:  pyridoxine-dependent epilepsy
GARD:0009298: 
MESH:C536254: 
Orphanet:3006: 
SCTID:734434007: 
UMLS:C1849508: 
UMLS:CN203406: