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Article

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

International journal of molecular sciences - 6 Nov 2021

Barile Anna, Mills Philippa, di Salvo Martino L, Graziani Claudio, Bunik Victoria, Clayton Peter, Contestabile Roberto, Tramonti Angela

Abstract excerpt

Several variants of the enzyme pyridox(am)ine 5'-phosphate oxidase (PNPO), responsible for a rare form of vitamin B6-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have been characterised with respect to their structural and functional properties, despite the fact that the knowledge of how variants affect the enzyme may clarify the...

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Identifiers

PMID: 34769443
DOI: 10.3390/ijms222112013
PMCID: PMC8584306

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