BRAT1 epileptic encephalopathy

Evidence-based neurology checklist on brat1 epileptic encephalopathy: Genetics This is caused by mutations in the BRAT1 gene The transmission is autosomal recessive Seizure syndromes Seizure features Neurological features Systemic features Course Acronym

Genetics

  • This is caused by mutations in the BRAT1 gene
  • The transmission is autosomal recessive

Seizure syndromes

Seizure features

Neurological features

Systemic features

Course

Acronym

References

  1. van de Pol LA, Wolf NI, van Weissenbruch MM, et al. Early-onset severe encephalopathy with epilepsy: the BRAT1 gene should be added to the list of causes. Neuropediatrics 2015; 46:392-400.
  2. Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S. A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal. Int J Neurosci 2020 (Epub ahead of print).
  3. Srivastava S, Olson HE, Cohen JS, et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A 2016; 170:2265-2273. 
  4. Scheffer IE, Boysen KE, Schneider AL, et al. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. Dev Med Child Neurol 2019; (Epub ahead of print).
  5. Gorito V, Rocha H, Melo C, et al. Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity. Epileptic Disord 2021; 23:765-768. 
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