Pyridoxine-dependent epilepsy

rare

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).

Identifiers: MONDO:0009945 Orphanet:3006
Part of: Hereditary neurological disease Inborn disorder of pyridoxine metabolism Metabolic epilepsy
Also known as: antiquitin deficiency · EPD · epilepsy, pyridoxine-dependent · pyridoxine dependency · vitamin B6-dependent seizures

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Epilepsy, early-onset, vitamin B6-dependent	MONDO:0015005		PLPBP
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	MONDO:0020741		ALDH7A1

Rare disease

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