Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

Pediatr Neurol. 2014 Feb;50(2):177-80. doi: 10.1016/j.pediatrneurol.2013.10.006. Epub 2013 Oct 24.

Abstract

Background: Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. Folinic acid-responsive seizures are treatable causes of Ohtahara syndrome, which is thought to be due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.

Method: Here we report a girl with Ohtahara syndrome who exhibited transient folinic acid responsiveness but without evidence of antiquitin dysfunction.

Results: She was later found to have a known missense mutation (c.1439 C > T, p.P480 L) in exon 16 of the STXBP1 gene.

Conclusion: For infants presenting with Ohtahara syndrome with responsiveness to folinic acid and negative antiquitin deficiency analyses, genetic testing for other possible causative genes such as STXBP1 mutation is recommended.

Keywords: Ohtahara syndrome; STXBP1 mutations; folinic acid responsive epilepsy; seizures.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aldehyde Dehydrogenase / genetics*
  • Anticonvulsants / therapeutic use*
  • Brain / drug effects
  • Brain / pathology
  • Brain / physiopathology
  • Diagnosis, Differential
  • Electroencephalography
  • Epilepsy / diagnosis
  • Epilepsy / drug therapy*
  • Epilepsy / genetics
  • Exons
  • Female
  • Humans
  • Infant, Newborn
  • Leucovorin / therapeutic use*
  • Magnetic Resonance Imaging
  • Munc18 Proteins / genetics*
  • Mutation, Missense
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / drug therapy*
  • Spasms, Infantile / genetics*
  • Treatment Outcome

Substances

  • Anticonvulsants
  • Munc18 Proteins
  • STXBP1 protein, human
  • ALDH7A1 protein, human
  • Aldehyde Dehydrogenase
  • Leucovorin

Supplementary concepts

  • Epileptic Encephalopathy, Early Infantile, 3