title: Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
authors: Winnie W Y
authors: WW
authors: Tso
authors: Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
authors: Anna K Y
authors: AK
authors: Kwong
authors: Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
authors: Cheuk Wing
authors: CW
authors: Fung
authors: Division 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.
authors: Virginia C N
authors: VC
authors: Wong
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D000927:Anticonvulsants / Q000627:therapeutic use*; D001921:Brain / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D002955:Leucovorin / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D051938:Munc18 Proteins / Q000235:genetics*; D020125:Mutation, Missense; D013036:Spasms, Infantile / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D051938:Munc18 Proteins; C497937:STXBP1 protein, human; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D002955:Leucovorin
keywords: Ohtahara syndrome; STXBP1 mutations; folinic acid responsive epilepsy; seizures