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

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

Author information

  • 1Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
  • 2Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong. Electronic address: vcnwong@hku.hk.

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.

Copyright © 2014 Elsevier Inc. All rights reserved.

KEYWORDS:

Ohtahara syndrome; STXBP1 mutations; folinic acid responsive epilepsy; seizures

PMID:
24315539
[PubMed - in process]
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