STX1B epileptic encephalopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
STX1B epileptic encephalopathy. This is caused by mutations in the STX1B gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the STX1B gene
- The gene encodes syntaxin 1B: this is a presynaptic protein
Epilepsy phenotypes
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Differential diagnosis of genetic febrile seizures
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Differential diagnosis of generalized epilepsy
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References
- Wolking S, May P, Mei D, et al. Clinical spectrum of STX1B-related epileptic disorders. Neurology 2019; 92:e1238-e1249.
- Schubert J, Siekierska A, Langlois M, et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet 2014; 46:1327-1332.
- Vlaskamp DR, Rump P, Callenbach PM, et al. Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. Eur J Paediatr Neurol 2016; 20:489-492.
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