BRAT1 epileptic encephalopathy

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

BRAT1 epileptic encephalopathy. This is caused by mutations in the BRAT1 gene. Fully referenced neurology checklist.

Genetics

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

Seizure syndromes

Locked: subscribe to see this section.

Seizure features

Locked: subscribe to see this section.

Neurological features

Locked: subscribe to see this section.

Systemic features

Locked: subscribe to see this section.

Course

Locked: subscribe to see this section.

Acronym

Locked: subscribe to see this section.

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. 
  6. And 2 more. Subscribe to see the full list

Related checklists

Loading...