WormBase Tree Display for DO_term: DOID:0080769
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| DOID:0080769 | Name | early-onset vitamin B6-dependent epilepsy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. | ||||
| Parent | Is_a | DOID:1826 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 617290 | |
| Attribute_of | Gene_by_orthology | WBGene00017286 |
