Gene: SCN9A

Alternate names for this Gene: ETHA|FEB3B|GEFSP7|HSAN2D|NE-NA|NENA|Nav1.7|PN1|SFNP

Gene Summary: This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: sodium voltage-gated channel alpha subunit 9

Type of Gene: protein-coding

Gene: SCN1A-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: SCN1A and SCN9A antisense RNA 1

Type of Gene: ncRNA

rs180922748 in SCN9A;SCN1A-AS1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs121908913 in SCN9A;SCN1A-AS1 gene and Generalized Epilepsy With Febrile Seizures Plus, 7 PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.

rs794729216 in SCN9A;SCN1A-AS1 gene and Indifference to Pain, Congenital, Autosomal Recessive PMID 17167479 2006 An SCN9A channelopathy causes congenital inability to experience pain.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

rs121908913 in SCN9A;SCN1A-AS1 gene and Neuropathy, Hereditary Sensory And Autonomic, Type IIA PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

rs1553479216 in SCN9A;SCN1A-AS1 gene and Overgrowth PMID 9037087 1997 Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.

PMID 14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

PMID 17679678 2007 Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

PMID 21118538 2010 Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.

PMID 15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

PMID 21698661 2012 Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

PMID 12210380 2002 Small-fiber neuropathy.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

PMID 23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

PMID 17167479 2006 An SCN9A channelopathy causes congenital inability to experience pain.

PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

PMID 23596073 2013 Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

PMID 16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.

PMID 17597096 2007 A stop codon mutation in SCN9A causes lack of pain sensation.

PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 15929046 2005 Erythromelalgia: a hereditary pain syndrome enters the molecular era.

PMID 8610490 1995 Idiopathic distal small fiber neuropathy.

PMID 18524793 2008 The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.

PMID 27504264 2016 Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

PMID 27413160 2016 Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

rs121908911 in SCN9A;SCN1A-AS1 gene and PAROXYSMAL EXTREME PAIN DISORDER PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 25285947 2015 p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

PMID 18945915 2008 NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

rs267607030 in SCN9A;SCN1A-AS1 gene and Primary Erythermalgia PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

PMID 14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

PMID 15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

PMID 24311784 2014 Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

PMID 15955112 2005 SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

PMID 19369487 2009 Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

PMID 15385606 2004 Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

PMID 18945915 2008 NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

PMID 16216943 2005 Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

PMID 16988069 2006 Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.

PMID 16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.