pyridoxine-dependent epilepsy; neonatal epileptic encephalopathy; pyridoxine-5'-phosphate oxidase deficiency; PNPO deficiency

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Pathology

  • combination of various seizure types

Genetics

  • associated with defects in ALDH7A1
  • associated with defects in PNPO

Clinical manifestations

  • generally occurs in the 1st hours of life
  • unresponsive to standard anticonvulsants

Management

More general terms

Additional terms

References

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