Novel SCN9A variant associated with congenital insensitivity to pain
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11033-023-08507-0.pdf
Reference25 articles.
1. Yuan R, Zhang X, Deng Q, Si D, Wu Y, Gao F et al (2011) Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception. Pain Med 12:1510–1514. https://doi.org/10.1111/j.1526-4637.2011.01237.x
2. Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L et al (2010) Congenital insensitivity to Pain: novel SCN9A missense and In-Frame deletion mutations. Hum Mutat 31:1670–1686. https://doi.org/10.1002/humu.21325
3. Peddareddygari LR, Oberoi K, Grewal RP (2014) Congenital Insensitivity to Pain: A Case Report and Review of the Literature. Case Rep Neurol Med 2014. https://doi.org/10.1155/2014/141953
4. Marchi M, Provitera V, Nolano M, Romano M, Maccora S, D’Amato I et al (2018) A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. J Peripher Nerv Syst 23:202–206. https://doi.org/10.1111/jns.12280
5. He W, Young GT, Zhang B, Cox PJ, Cho LT-Y, John S et al (2018) Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7. BMC Med Genet 19. https://doi.org/10.1186/s12881-018-0643-4
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