Ohtahara syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Ohtahara syndrome: clinical features. STXBP1, ARX, SLC25A22, GABRA1. Fully referenced neurology checklist.
Genetic mutations
- STXBP1
- ARX
- SLC25A22
- GABRA1
Structural causes
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Demographic features
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Clinical features
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Seizure types
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Outcome
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References
- Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol 2012; 47:317-323.
- 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.
- Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
- Kodera H, Ohba C, Kato M, et al. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia 2016; 57:566-573.
- Johannesen K, Marini C, Pfeffer S, et al. Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies. Neurology 2016; 87:1140-1151.
