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pyridoxal phosphate-responsive seizures

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Uniprot Description The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.
Mondo Term and Equivalent IDs
MONDO:0012407:  pyridoxal phosphate-responsive seizures
DOID:0111329: 
GARD:0010730: 
MESH:C566449: 
Orphanet:79096: 
SCTID:724576005: 
UMLS:C1864723: