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pyridoxine-dependent epilepsy
Summary
- Definition
- An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
- Super Class
- autosomal recessive disease epilepsy
External Links
- Disease Ontology
- DOID:0080768
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011968 | Feeding difficulties |
| HP:0002133 | Status epilepticus |
| HP:0000750 | Delayed speech and language development |
| HP:0000238 | Hydrocephalus |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001252 | Hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001263 | Global developmental delay |
| HP:0000486 | Strabismus |
| HP:0003623 | Neonatal onset |
