STXBP1

Rôles

En médecine

Notes et références

1. ↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000136854 - Ensembl, May 2017
2. ↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000026797 - Ensembl, May 2017
3. ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
4. ↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
5. ↑ ^{a et b} Saitsu H, Kato M, Mizuguchi T et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Nat Genet, 2008;40:782–788
6. ↑ Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M, Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation, J Neurochem, 2005;93:1393–1400
7. ↑ Toonen RF, Wierda K, Sons MS et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size, Proc Natl Acad Sci U S A, 2006;103:18332–18337
8. ↑ Patzke C, Han Y, Covy J et al. Analysis of conditional heterozygous STXBP1 mutations in human neurons, J Clin Investig, 2015;125:3560-3571
9. ↑ Saitsu H, Kato M, Matsumoto N, Haploinsufficiency of STXBP1 and Ohtahara syndrome, In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jasper’s Basic Mechanisms of the Epilepsies. 4th ed. Bethesda, Maryland, USA: 2012
10. ↑ Milh M, Villeneuve N, Chouchane M et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations, Epilepsia, 2011;52:1828–1834
11. ↑ Hamdan FF, Gauthier J, Dobrzeniecka S et al. Intellectual disability without epilepsy associated with STXBP1 disruption, Eur J Hum Genet, 2011;19:607–609