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A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. Leipold E, et al. Among authors: goral ro. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036948
Presynaptic development is controlled by the core active zone proteins CAST/ELKS.
Radulovic T, Dong W, Goral RO, Thomas CI, Veeraraghavan P, Montesinos MS, Guerrero-Given D, Goff K, Lübbert M, Kamasawa N, Ohtsuka T, Young SM Jr. Radulovic T, et al. Among authors: goral ro. J Physiol. 2020 Jun;598(12):2431-2452. doi: 10.1113/JP279736. Epub 2020 May 19. J Physiol. 2020. PMID: 32304329 Free PMC article.