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early-onset vitamin B6-dependent epilepsy 1
Summary
- Synonym
-
- EPEO1
- PDE-PLPBP
- Definition
- A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
- Super Class
- pyridoxine-dependent epilepsy
External Links
- Disease Ontology
- DOID:0080769
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0002119 | Ventriculomegaly |
| HP:0012704 | Widened subarachnoid space |
| HP:0002521 | Hypsarrhythmia |
| HP:0001250 | Seizure |
| HP:0011097 | Epileptic spasm |
| HP:0000273 | Facial grimacing |
| HP:0007359 | Focal-onset seizure |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0002079 | Hypoplasia of the corpus callosum |
