Pyridoxine Responsiveness and PNPO Gene Mutations

J Gordon Millichap

doi:10.15844/pedneurbriefs-28-6-2

Pyridoxine Responsiveness and PNPO Gene Mutations

Pediatric Neurology Briefs

Volume 28 (2014): Issue 6

By: J Gordon Millichap

Open Access

|Jun 2014

Abstract

Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.

References

Plecko B Paul K Mills P Clayton P Paschke E Maier O Pyridoxine responsiveness in novel mutations of the PNPO gene Neurology 2014 Apr 22 82 16 1425 33 10.1212/WNL.0000000000000344 24658933
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Pearl PL Gospe SM Jr Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier Neurology 2014 Apr 22 82 16 1392 4 10.1212/WNL.0000000000000351 24658927
Open DOI Search in Google Scholar Back to article
Jain-Ghai S Mishra N Hahn C Blaser S Mercimek-Mahmutoglu S Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient Pediatrics 2014 Apr 133 4 e1092 6 10.1542/peds.2013-1230 24664088
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-6-2 | Journal eISSN: 2166-6482

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Language: English

Page range: 42 - 43

Published on: Jun 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Pyridoxal 5-Phosphate Oxidase,

Burst-Suppression Pattern,

Cases of Partial Pyridoxine

© 2014 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 6