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Summary Literature (0)
DOID:0080768 - pyridoxine-dependent epilepsy


Disease Ontology Definition:An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.

Synonyms:

In OMIM:
OMIM:266100 - EPILEPSY, PYRIDOXINE-DEPENDENT; EPD


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : aldh7a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), epilepsy (is_a)