Concepedia

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

Maria Mansouri, Siham Chafai Elalaoui, Bouchra Ouled Amar Bencheikh, Mohamed El Alloussi, Patrick A. Dion, Abdelaziz Sefiani, Guy A. Rouleau

Pediatric Neurology · 2014 · 19 citations · 16 references

DOI

Concepts

References

16

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

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The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways

Armen N. Akopian, Veronika Souslova, Steven England et al. · Nature Neuroscience · 1999 · 808 citations

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SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Caroline Fertleman, Mark D. Baker, Keith A. Parker et al. · Neuron · 2006 · 755 citations · Full text

, , +14

Loss‐of‐function mutations in the Na <sub>v</sub> 1.7 gene underlie congenital indifference to pain in multiple human populations

Y. Paul Goldberg, Julie MacFarlane, ML MacDonald et al. · Clinical Genetics · 2007 · 457 citations

, , +17

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia

Jan Weiss, Martina Pyrski, Eric Jacobi et al. · Nature · 2011 · 296 citations

, , +13