STX1B epileptic encephalopathy
Evidence-based neurology checklist on stx1b epileptic encephalopathy: Genetics This is caused by mutations in the STX1B gene The gene encodes syntaxin 1B: this is a presynaptic protein Epilepsy phenotypes Differential diagnosis of genetic febrile seizures Differential diagnosis of generalized…
Genetics
- This is caused by mutations in the STX1B gene
- The gene encodes syntaxin 1B: this is a presynaptic protein
Epilepsy phenotypes
Differential diagnosis of genetic febrile seizures
Differential diagnosis of generalized epilepsy
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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