Associated Papers
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Chi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Barile A et al.
International Journal of Molecular Sciences, 2021
34769443 (PubMed )
Supplement: ijms-22-12013-s001.zip › ijms-1452964-supplementary.pdf
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Wilson MP et al.
Analytical Chemistry, 2017
28782931 (PubMed )
Supplement: ac7b01358_si_001.pdf
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
Select a paper to view details