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
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Barile A et al.
Scientific Reports, 2020
32788630 (PubMed )
Supplement: 41598_2020_70598_MOESM1_ESM.pdf
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
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