Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome

Neurologia. 2016 Oct;31(8):523-7. doi: 10.1016/j.nrl.2014.10.017. Epub 2015 Jan 24.
[Article in En, Spanish]


Introduction: Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation. Mutations in STXBP1 -a gene that codes for syntaxin binding protein 1 and is involved in synaptic vesicle exocytosis- has been identified in most patients with OS.

Patient and results: We report the case of a 19-month-old child with OS who displays a previously unreported mutation in STXBP1 (c.1249+2T>C, G417AfsX7). This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein.

Conclusion: This previously unreported STXBP1 mutation in a subject with Ohtahara syndrome and non-lesional magnetic resonance imaging (MRI) broadens the mutational spectrum associated with this devastating epileptic syndrome.

Keywords: Clinical genetics; Early-onset epileptic encephalopathy; Encefalopatía epiléptica de inicio precoz; Epilepsia; Epilepsy; Genética clínica; Ohtahara syndrome; STXBP1; Síndrome de Ohtahara.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Exons / genetics
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Magnetic Resonance Imaging
  • Male
  • Munc18 Proteins / genetics*
  • Mutation / genetics*
  • Spasms, Infantile / diagnostic imaging
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / psychology


  • Munc18 Proteins
  • STXBP1 protein, human

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy