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Article

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

10 Feb 2016

Abstract excerpt

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 novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample...

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Identifiers

PMID: 27014579
DOI: 10.1016/j.ymgmr.2016.01.004

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