epilepsy, early-onset, vitamin B6-dependent
Findings
No curated finding names epilepsy, early-onset, vitamin B6-dependent yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
Definition from the Mondo Disease Ontology (MONDO:0015005), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
27 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Tonic seizureHPOHP:0032792
- 4 of 4 reported patients
- Secondary microcephalyHPOHP:0005484
- 6 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 6 reported patients
- IrritabilityHPOHP:0000737
- 3 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 7 reported patients
- EEG with burst suppressionHPO
Show the remaining 15
- HypertoniaHPOHP:0001276
- 3 of 7 reported patients
- Myoclonic seizureHPOHP:0032794
- 3 of 7 reported patients
- MyoclonusHPOHP:0001336
- 3 of 7 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 3 of 7 reported patients · Neonatal onset
- EsodeviationHPOHP:0020045
- 1 of 4 reported patients
- Long philtrumHPOHP:0000343
- 1 of 4 reported patients
Genes
1 gene
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.
- PLPBPHGNC:9457
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2010
Where it sits
Other names
2 names
Resolves to: epilepsy, early-onset, vitamin B6-dependent
- Also called
- epilepsy, early-onset, vitamin B6-dependent; EPVB6DEPVB6D