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

Journal Article (Review)

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.

Full Text

Duke Authors

Cited Authors

  • Veerapandiyan, A; Winchester, SA; Gallentine, WB; Smith, EC; Kansagra, S; Hyland, K; Mikati, MA

Published Date

  • March 2011

Published In

Volume / Issue

  • 20 / 3

Start / End Page

  • 494 - 501

PubMed ID

  • 21292558

Pubmed Central ID

  • 21292558

Electronic International Standard Serial Number (EISSN)

  • 1525-5069

Digital Object Identifier (DOI)

  • 10.1016/j.yebeh.2010.12.046


  • eng

Conference Location

  • United States