pyridoxine-dependent epilepsy
Findings
No curated finding names pyridoxine-dependent epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0009945), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SeizureHPOHP:0001250
- Obligate (100% of cases)
- Early onset absence seizuresHPOHP:0011152
- Frequent (30% to 79% of cases)
- EEG with burst suppressionHPOHP:0010851
- Frequent (30% to 79% of cases)
- EEG with generalized slow activityHPOHP:0010845
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Fetal distressHPOHP:0025116
- Frequent (30% to 79% of cases)
- Focal aware motor seizureHPOHP:0020217
- Frequent (30% to 79% of cases)
- Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- Low APGAR scoreHPOHP:0030917
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
Show the remaining 23
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Prenatal movement abnormalityHPOHP:0001557
- Frequent (30% to 79% of cases)
- Status epilepticusHPOHP:0002133
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Occasional (5% to 29% of cases)
- Atonic seizureHPOHP:0010819
- Occasional (5% to 29% of cases)
- Brain atrophyHPOHP:0012444
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: pyridoxine-dependent epilepsy
- Also called
- antiquitin deficiencyvitamin B6-dependent seizures