Term Name: | early-onset vitamin B6-dependent epilepsy 1 |
---|---|
Synonyms: | early-onset vitamin B6-dependent epilepsy, EPEO1, PDE-PLPBP |
Definition: | A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. |
Ontology: | Human Disease [DOID:0080769] ( DOID:0080769 ) |