Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7-Reference-Cited by-同舟云学术

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

Published:2018-07-23 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

He Wen^ORCID,Young Gareth T.,Zhang Baohong,Cox Peter J.,Cho Lily Ting-Yin,John Sally,Paciga Sara A.,Wood Linda S.,Danziger Nicolas,Scollen Serena,Vangjeli Ciara

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0643-4.pdf

Reference20 articles.

1. Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006;444:894–8.

2. Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet. 2007;71:311–9.

3. Waxman SG. Painful Na-channelopathies: an expanding universe. Trends Mol Med. 2013;19:406–9.

4. Danziger N, Prkachin KM, Willer JC. Is pain the price of empathy? The perception of others’ pain in patients with congenital insensitivity to pain. Brain. 2006;129:2494–507.

5. Li H, Durbin R. Fast and accurate long-read alignment with burrows-wheeler transform. Bioinformatics. 2010;26:589–95.

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