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Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9DBF1 | Alpha-aminoadipic semialdehyde dehydrogenase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002133 | Status epilepticus |
| HP:0002188 | Delayed CNS myelination |
| HP:0002280 | Enlarged cisterna magna |
| HP:0002521 | Hypsarrhythmia |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003128 | Lactic acidosis |
| HP:0007359 | Focal-onset seizure |
| HP:0010819 | Atonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0010845 | EEG with generalized slow activity |
