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
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
rs199692186 in
SCN1A-AS1;SCN9A gene and
Epilepsy, Rolandic
PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
rs1057518900 in
SCN1A-AS1;SCN9A gene and
Generalized Epilepsy With Febrile Seizures Plus, 7
PMID 374104 1979 Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells.
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 25253744 2014 Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.
PMID 23149731 2012 Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
PMID 19557861 2009 A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
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.
rs1057518900 in
SCN1A-AS1;SCN9A gene and
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
PMID 374104 1979 Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells.
PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
PMID 25253744 2014 Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.
PMID 19557861 2009 A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
PMID 23149731 2012 Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
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.
rs121908910 in
SCN1A-AS1;SCN9A gene and
PAROXYSMAL EXTREME PAIN DISORDER
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.
PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
rs200945460 in
SCN1A-AS1;SCN9A gene and
Primary Erythermalgia
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 21698661 2012 Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
PMID 22035805 2012 Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.
PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
PMID 16988069 2006 Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.
PMID 15955112 2005 SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
PMID 15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
PMID 16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.
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 24311784 2014 Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.
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 16216943 2005 Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
PMID 14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.