Pain Insensitivity: Distal S6-segment Mutations in Na1.9 Emerge As Critical Hotspot

Overview

Journal Neurogenetics

Specialty Neurology

Date 2017 Mar 15

PMID 28289907

Citations 15

Authors

Margaret K King

Enrico Leipold

Jessica M Goehringer

Ingo Kurth

Thomas D Challman

Affiliations

Soon will be listed here.

Citing Articles

Multiple gating processes associated with the distal end of the S6 segment of domain II in the Nav channels.

Chen M, Peng S, Xiao Z, Liu Z, Zhou X J Biol Chem. 2024; 301(1):108060.

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Peripheral temperature dysregulation associated with functionally altered Na1.8 channels.

Loose S, Lischka A, Kuehs S, Nau C, Heinemann S, Kurth I Pflugers Arch. 2023; 475(11):1343-1355.

PMID: 37695396 PMC: 10567936. DOI: 10.1007/s00424-023-02856-2.

Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report.

Makar G, Kahlon S, Seeley M J Orthop Case Rep. 2023; 13(8):19-23.

PMID: 37654749 PMC: 10465737. DOI: 10.13107/jocr.2023.v13.i08.3798.

The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility.

Zhao C, Zhou X, Shi X Channels (Austin). 2023; 17(1):2212350.

PMID: 37186898 PMC: 10187076. DOI: 10.1080/19336950.2023.2212350.

Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker.

Okuda H, Inoue S, Oyamada Y, Koizumi A, Youssefian S Heliyon. 2023; 9(4):e15423.

PMID: 37151704 PMC: 10161610. DOI: 10.1016/j.heliyon.2023.e15423.

References

Zhang X, Wen J, Yang W, Wang C, Gao L, Zheng L . Gain-of-function mutations in SCN11A cause familial episodic pain. Am J Hum Genet. 2013; 93(5):957-66. PMC: 3824123. DOI: 10.1016/j.ajhg.2013.09.016. View

Leipold E, Hanson-Kahn A, Frick M, Gong P, Bernstein J, Voigt M . Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nat Commun. 2015; 6:10049. PMC: 4686659. DOI: 10.1038/ncomms10049. View

Waxman S, Merkies I, Gerrits M, Dib-Hajj S, Lauria G, Cox J . Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use. Lancet Neurol. 2014; 13(11):1152-1160. DOI: 10.1016/S1474-4422(14)70150-4. View

Dib-Hajj S, Black J, Waxman S . NaV1.9: a sodium channel linked to human pain. Nat Rev Neurosci. 2015; 16(9):511-9. DOI: 10.1038/nrn3977. View

Phatarakijnirund V, Mumm S, McAlister W, Novack D, Wenkert D, Clements K . Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9. Bone. 2016; 84:289-298. PMC: 4755825. DOI: 10.1016/j.bone.2015.11.022. View