Ohtahara syndrome: clinical features

Evidence-based neurology checklist on ohtahara syndrome: clinical features: Genetic mutations STXBP1 ARX SLC25A22 GABRA1 Structural causes Demographic features Clinical features Seizure types Outcome

Genetic mutations

  • STXBP1
  • ARX
  • SLC25A22
  • GABRA1

Structural causes

Demographic features

Clinical features

Seizure types

Outcome

References

  1. Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol 2012; 47:317-323.
  2. Fullston T, Brueton L, Willis T, et al. Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). Eur J Hum Genet 2010; 18:157-162.
  3. Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
  4. Kodera H, Ohba C, Kato M, et al. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia 2016; 57:566-573.
  5. Johannesen K, Marini C, Pfeffer S, et al. Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies. Neurology 2016; 87:1140-1151.

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