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 )

Relationships
is a type of: pyridoxine-dependent epilepsy