early-onset vitamin B6-dependent epilepsy 1

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Summary

Literature (0)

DOID:0080769 - early-onset vitamin B6-dependent epilepsy 1

Disease Ontology Definition:A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.

Synonyms: early-onset vitamin B6-dependent epilepsy, EPEO1, PDE-PLPBP

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: plpbp

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), epilepsy (is_a), pyridoxine-dependent epilepsy (is_a)