Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4789384/
https://ncbi.nlm.nih.gov/pubmed/27014579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.01.004
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