Pyridoxine Responsiveness and PNPO Gene Mutations
DOI:
https://doi.org/10.15844/pedneurbriefs-28-6-2Keywords:
Pyridoxal 5-Phosphate Oxidase, Burst-Suppression Pattern, Cases of Partial PyridoxineAbstract
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.Published
2014-06-01
Issue
Section
Seizure Disorders
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