Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy

Epilepsy Behav. 2011 Mar;20(3):494-501. doi: 10.1016/j.yebeh.2010.12.046. Epub 2011 Feb 2.


We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Electroencephalography* / drug effects
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology*
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Pyridoxal Phosphate / cerebrospinal fluid
  • Pyridoxal Phosphate / genetics*
  • Pyridoxal Phosphate / therapeutic use


  • Pyridoxal Phosphate