Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

@article{Mills2005NeonatalEE,
  title={Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.},
  author={Philippa B. Mills and Robert A H Surtees and Michael P Champion and Clare E. Beesley and Neil Dalton and Peter J. Scambler and Simon J. R. Heales and Anthony Briddon and Irene Scheimberg and Georg Friedrich Hoffmann and Johannes Zschocke and Peter Theodore Clayton},
  journal={Human molecular genetics},
  year={2005},
  volume={14 8},
  pages={1077-86}
}
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This study of five patients with neonatal epileptic encephalopathy suggests that the same is true in man. Cerebrospinal fluid and urine analyses indicated reduced activity of aromatic L-amino acid decarboxylase and other PLP-dependent enzymes. Seizures ceased with the administration of PLP, having been… CONTINUE READING
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