| Metadata | |
|---|---|
| ID | DOID:0080769 |
| Name | early-onset vitamin B6-dependent epilepsy 1 |
| Definition | A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. https://pubmed.ncbi.nlm.nih.gov/27912044/, https://pubmed.ncbi.nlm.nih.gov/30668673/, https://www.ncbi.nlm.nih.gov/books/NBK589231/ |
| Xrefs | |
| Synonyms |
early-onset vitamin B6-dependent epilepsy [BROAD] EPEO1 [EXACT] PDE-PLPBP [EXACT] |
| Parent Relationships |