Concepedia

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

X ZHANG, Jingmin Wen, Wei Yang, Cheng Wang, Luna Gao, Liang Hong Zheng, Tao Wang, Kaikai Ran, Yulei Li, Xiangyang Li,

The American Journal of Human Genetics · 2013 · 190 citations · 26 references

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References

26

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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Structural parts involved in activation and inactivation of the sodium channel

Walter Stühmer, Franco Conti, Harukazu Suzuki et al. · Nature · 1989 · 1.2K citations · Full text

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Mutations in <i>SCN9A</i>, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

Ying Yang · Journal of Medical Genetics · 2004 · 795 citations · Full text

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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

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Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

Lori L. Isom, K De Jongh, Dennis D. Patton et al. · Science · 1992 · 702 citations

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