Condition: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII


rs1085307142 in SCN11A gene and NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII PMID 28289907 2017 Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

PMID 26746779 2016 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.

PMID 25118027 2015 The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

PMID 24036948 2013 A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

PMID 26645915 2015 Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.