FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term early-onset vitamin B6-dependent epilepsy 1 ID (Ontology) DOID:0080769 (Human Disease)
Definition A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
Also Known As "EPEO1" ; "PDE-PLPBP"
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 Genes
 early-onset vitamin B6-dependent epilepsy 1       1
 for disease ribbon | early-onset vitamin B6-dependent epilepsy 1       1
 model of | early-onset vitamin B6-dependent epilepsy 1       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
epilepsy_____________________|
                             pyridoxine-dependent epilepsy
                              |__early-onset vitamin B6-dependent epilepsy 1  1 rec.
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Is a pyridoxine-dependent epilepsy
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Synonyms
  • "early-onset vitamin B6-dependent epilepsy" BROAD
    "EPEO1" EXACT OMO:0003012
    "PDE-PLPBP" EXACT OMO:0003012
Secondary IDs
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MIM:617290