STXBP1 epileptic encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

STXBP1 epileptic encephalopathy. This is caused by mutations in the STXBP1 (syntaxin binding protein 1) gene. Fully referenced neurology checklist.

Genetics and pathology

  • This is caused by mutations in the STXBP1 (syntaxin binding protein 1) gene
  • These cause focal cortical dysplasia

Epilepsy syndromes

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Epilepsy patterns

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Other features

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Electroencephalogram (EEG): features

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Magnetic resonance imaging (MRI) brain

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Treatment

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References

  1. Milh M, Villeneuve N, Chouchane Met al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia 2011; 52:1828-1834. 
  2. Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology 2016; 86:954-962.
  3. Di Meglio C, Lesca G, Villeneuve N, et al. Epileptic patients with de novo STXBP1 mutations: key clinical features based on 24 cases. Epilepsia 2015; 56:1931-1940.
  4. Di Meglio C, Lesca G, Villeneuve N, et al. Epileptic patients with de novo STXBP1 mutations: key clinical features based on 24 cases. Epilepsia 2015; 56:1931-1940.
  5. Weckhuysen S, Holmgren P, Hendrickx R, et al. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013; 54:e74-e80. 
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