| Metadata | |
|---|---|
| ID | DOID:0080768 |
| Name | pyridoxine-dependent epilepsy |
| 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. https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/, https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:734434007 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a epilepsy |