STXBP1

Publications

Kovacevic J et al. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018;141(5):1350-1374. PMID: 29538625.

Stamberger H et al. STXBP1 as a therapeutic target for epileptic encephalopathy. Expert Opin Ther Targets. 2017;21(11):1027-1036. PMID: 28971703. Review.

Stamberger H et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-62. PMID: 26865513. Review.

Saitsu H et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40(6):782-8. PMID: 18469812.

Toonen RF et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci U S A. 2006;103(48):18332-7. PMID: 17110441.

https://stxbp1.cncr.nl/