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

Publication ,  Journal Article
Veerapandiyan, A; Winchester, SA; Gallentine, WB; Smith, EC; Kansagra, S; Hyland, K; Mikati, MA
Published in: Epilepsy Behav
March 2011

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.

Duke Scholars

Published In

Epilepsy Behav

DOI

EISSN

1525-5069

Publication Date

March 2011

Volume

20

Issue

3

Start / End Page

494 / 501

Location

United States

Related Subject Headings

  • Pyridoxal Phosphate
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Infant
  • Humans
  • Epilepsy
  • Electroencephalography
  • Child, Preschool
  • 5203 Clinical and health psychology
 

Citation

APA
Chicago
ICMJE
MLA
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Veerapandiyan, A., Winchester, S. A., Gallentine, W. B., Smith, E. C., Kansagra, S., Hyland, K., & Mikati, M. A. (2011). Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. Epilepsy Behav, 20(3), 494–501. https://doi.org/10.1016/j.yebeh.2010.12.046
Veerapandiyan, Aravindhan, Sara A. Winchester, William B. Gallentine, Edward C. Smith, Sujay Kansagra, Keith Hyland, and Mohamad A. Mikati. “Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.Epilepsy Behav 20, no. 3 (March 2011): 494–501. https://doi.org/10.1016/j.yebeh.2010.12.046.
Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, et al. Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. Epilepsy Behav. 2011 Mar;20(3):494–501.
Veerapandiyan, Aravindhan, et al. “Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.Epilepsy Behav, vol. 20, no. 3, Mar. 2011, pp. 494–501. Pubmed, doi:10.1016/j.yebeh.2010.12.046.
Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, Mikati MA. Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. Epilepsy Behav. 2011 Mar;20(3):494–501.
Journal cover image

Published In

Epilepsy Behav

DOI

EISSN

1525-5069

Publication Date

March 2011

Volume

20

Issue

3

Start / End Page

494 / 501

Location

United States

Related Subject Headings

  • Pyridoxal Phosphate
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Infant
  • Humans
  • Epilepsy
  • Electroencephalography
  • Child, Preschool
  • 5203 Clinical and health psychology