| 1 | HSAN7, SCN11A |
| 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. | |
| Nat Genet 45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. 2013 | |
| 2 | HSAN7, SCN11A |
| Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain. | |
| Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. | |
| Am J Hum Genet 93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. 2013 | |