Title : Pyridoxine dependent epilepsies: new therapeutical point of view.

Pub. Date : 2017 Aug 5

PMID : 28779752






1 Functional Relationships(s)
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1 Mutations in the gene encoding for the pyridoxal-5"-phosphate oxidase enzyme (PNPO) are responsible of a clinical entity similar to PDEs responsive to pyridoxal-5-phosphate administration not to pyridoxine administration. Pyridoxal Phosphate pyridoxamine 5'-phosphate oxidase Homo sapiens