STXBP1 epileptic encephalopathy

Evidence-based neurology checklist on stxbp1 epileptic encephalopathy: Genetics and pathology This is caused by mutations in the STXBP1 (syntaxin binding protein 1) gene These cause focal cortical dysplasia Epilepsy syndromes Epilepsy patterns Other features Electroencephalogram (EEG): features…

Genetics and pathology

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

Epilepsy syndromes

Epilepsy patterns

Other features

Electroencephalogram (EEG): features

Magnetic resonance imaging (MRI) brain

Treatment

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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