Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

The first described patients with pyridox(am)ine 5’-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5’-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5’-phosph...

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Detalhes bibliográficos
Main Authors: Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3999720/
https://ncbi.nlm.nih.gov/pubmed/24645144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu051
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