Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

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

(2016) Voraluck Phatarakijnirund et al.   BONE

NaV1.9: a sodium channel linked to human pain

(2015) Sulayman D. Dib-Hajj et al.   NATURE REVIEWS NEUROSCIENCE

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

(2015) Enrico Leipold et al.   Nature Communications

Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use

(2014) Stephen G Waxman et al.   LANCET NEUROLOGY

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

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS