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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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
Soggetti:
Short Communication
Accesso online: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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