Search Ontology:
Human Disease

early-onset vitamin B6-dependent epilepsy 1

Term ID
DOID:0080769
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. (3)
References
Ontology
Human Disease   ( DOID:0080769 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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