Pyridoxine-dependent seizures: a clinical and biochemical conundrum.

@article{Baxter2003PyridoxinedependentSA,
  title={Pyridoxine-dependent seizures: a clinical and biochemical conundrum.},
  author={Peter Stuart Baxter},
  journal={Biochimica et biophysica acta},
  year={2003},
  volume={1647 1-2},
  pages={36-41}
}
Pyridoxine-dependent seizures have been recognised for 40 years, but the clinical and biochemical features are still not understood. It is a rare recessively inherited condition where classically a baby starts convulsing in utero and continues to do so after birth, until given pyridoxine. Many of these early onset cases also have an acute encephalopathy and other clinical features. Late onset cases are now recognised with a less severe form of the condition. Seizures can break through with… CONTINUE READING

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