Sporadic onset of erythermalgia: A gain‐of‐function mutation in Nav1.7

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Annals of Neurology

• Publication date

  2006-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ana.20776PMID 16392115
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

  2005cited by this paper
• SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

  2005influential reference
• Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones

  2005cited by this paper
• Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

  2004cited by this paper
• Changes in the expression of tetrodotoxin‐sensitive sodium channels within dorsal root ganglia neurons in inflammatory pain

  2004cited by this paper
• Electrophysiological Properties of Mutant Nav1.7 Sodium Channels in a Painful Inherited Neuropathy

  2004cited by this paper
• Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain.

  2004cited by this paper
• Distinct repriming and closed‐state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons

  2003cited by this paper
• Sensory and electrophysiological properties of guinea‐pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel α subunit protein

  2003cited by this paper
• An expanding view for the molecular basis of familial periodic paralysis.

  2002cited by this paper
• The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.

  2001cited by this paper
• Slow Closed-State Inactivation: A Novel Mechanism Underlying Ramp Currents in Cells Expressing the hNE/PN1 Sodium Channel

  1998cited by this paper
• Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.

  1997cited by this paper
• A Novel Tetrodotoxin-sensitive, Voltage-gated Sodium Channel Expressed in Rat and Human Dorsal Root Ganglia*

  1997cited by this paper
• Structure and functional expression of a new member of the tetrodotoxin‐sensitive voltage‐activated sodium channel family from human neuroendocrine cells.

  1995cited by this paper
• Hereditary erythermalgia and acquired erythromelalgia.

  1993cited by this paper
• Autosomal dominant erythromelalgia.

  1992cited by this paper
• Three types of sodium channels in adult rat dorsal root ganglion neurons.

  1992cited by this paper
• Electrical properties of rat dorsal root ganglion neurones with different peripheral nerve conduction velocities.

  1985cited by this paper

• FK506 causes pain by upregulating NaV1.7 channels in the spinal dorsal root ganglia of NaV1.7–ChR2 mice

  2026cites this paper
• The parabss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects

  2026cites this paper
• Nav1.8: Intrinsic limits on the functional effect of abrogation in DRG neurons.

  2025cites this paper
• Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.

  2025cites this paper
• Towards development of Nav1.7 channel modulators for pain treatment: A comparison of mexiletine effect in two cell models by automated patch clamp.

  2025cites this paper
• Design, synthesis, structure-activity relationship (SAR) and analgesic effect studies of novel arylsulfonamides as selective Nav1.7 inhibitors.

  2025cites this paper
• Voltage-gated sodium channels (NaV) in GtoPdb v.2025.3

  2025cites this paper
• Interplay of Nav1.8 and Nav1.7 channels drives neuronal hyperexcitability in neuropathic pain

  2024cites this paper
• Human pain channelopathies.

  2024cites this paper
• A versatile residue numbering scheme for Nav and Cav channels.

  2024cites this paper
• Voltage-gated sodium channels (NaV) in GtoPdb v.2023.1

  2023cites this paper
• A Review of the Therapeutic Targeting of SCN9A and Nav1.7 for Pain Relief in Current Human Clinical Trials

  2023cites this paper
• Ih current stabilizes excitability in rodent DRG neurons and reverses hyperexcitability in a nociceptive neuron model of inherited neuropathic pain

  2023cites this paper
• Gene variant effects across sodium channelopathies predict function and guide precision therapy

  2022cites this paper
• Histamine Sensitization of the Voltage-Gated Sodium Channel Nav1.7 Contributes to Histaminergic Itch in Mice.

  2022cites this paper
• Non‐canonical endogenous expression of voltage‐gated sodium channel NaV1.7 subtype by the TE671 rhabdomyosarcoma cell line

  2022cites this paper
• Expanding the genetic causes of small‐fiber neuropathy: SCN genes and beyond

  2022cites this paper
• A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.

  2021cites this paper
• Erythermalgia (erythromelalgia). Redefining the classification of adult erythromelalgia.

  2021cites this paper
• E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

  2021cites this paper
• Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study

  2021cites this paper
• Hydropathicity-based prediction of pain-causing NaV1.7 variants

  2021influential citation
• Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes

  2020cites this paper
• Cumulative hydropathic topology of a voltage‐gated sodium channel at atomic resolution

  2020cites this paper
• Genetic Small Fiber Sensory Neuropathy and Channelopathy

  2019cites this paper
• Small‐fiber neuropathy: Expanding the clinical pain universe

  2019cites this paper
• Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single‐Center Case Series

  2019cites this paper
• Voltage-gated sodium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

  2019cites this paper
• Using Bifurcation Theory for Exploring Pain

  2019influential citation
• [Erythromelalgia: skin redness and pain].

  2019cites this paper
• A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy

  2019cites this paper
• Manifestations in the Oral Mucosa of Erythromelalgia. A Case Report

  2019cites this paper
• The Role of Voltage-Gated Sodium Channels in Pain Signaling.

  2019cites this paper
• Mutation in Nav1.7 causes high olfactory sensitivity

  2018cites this paper
• Burn injury: Challenges and advances in burn wound healing, infection, pain and scarring

  2018cites this paper
• Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation

  2018cites this paper
• Erythromelalgia.

  2018cites this paper
• Chasing Men on Fire: The Story of the Search for a Pain Gene

  2018cites this paper
• The AMPK Activator A769662 Blocks Voltage-Gated Sodium Channels: Discovery of a Novel Pharmacophore with Potential Utility for Analgesic Development

  2017cites this paper
• Afferent information modulates spinal network activity in vitro and in preclinical animal models

  2017cites this paper
• Network topology of NaV1.7 mutations in sodium channel-related painful disorders

  2017cites this paper
• Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia

  2017cites this paper
• Pain thresholds, supra‐threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7

  2017cites this paper
• Animal toxins for channelopathy treatment

  2017cites this paper
• Genetic studies of human neuropathic pain conditions: a review

  2017cites this paper
• Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia

  2017cites this paper
• NaV1.7 as a pain target - From gene to pharmacology.

  2017cites this paper
• Characterisation of Nav1.7 functional expression in rat dorsal root ganglia neurons by using an electrical field stimulation assay

  2017cites this paper
• Molecular pathobiology of aspirin responsive erythromelalgia in thrombocythemia and incurable inherited erythermalgia in Nav1.7mutated neuropathy

  2017cites this paper
• DRG Voltage-Gated Sodium Channel 1.7 Is Upregulated in Paclitaxel-Induced Neuropathy in Rats and in Humans with Neuropathic Pain

  2017cites this paper
• Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development

  2017cites this paper
• Genetic predictors of human chronic pain conditions.

  2016cites this paper
• Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

  2016cites this paper
• Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade

  2016cites this paper
• Voltage-Gated Ion Channels in the PNS: Novel Therapies for Neuropathic Pain?

  2016cites this paper
• Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.

  2015cites this paper
• Mutations in Sodium Channel Gene SCN9A and the Pain Perception Disorders

  2015cites this paper
• Ion channels in nociceptors

  2015cites this paper
• ResearchEffects of ranolazine on wild-type and mutant hNav 1 . 7 channels and on DRG neuron excitability

  2015cites this paper
• Primary erythromelalgia: a review

  2015cites this paper
• SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity

  2015cites this paper
• by Toggling an Amino Acid in the First S3-S4 Linker Alternative Splicing Modulates Inactivation of Type 1 Voltage-gated Sodium Channels

  2015cites this paper
• The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

  2015cites this paper
• Intrathecal injection of fluorocitric acid inhibits the activation of glial cells causing reduced mirror pain in rats

  2014cites this paper
• Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.

  2014cites this paper
• The clinical approach to small fibre neuropathy and painful channelopathy

  2014cites this paper
• An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature

  2014cites this paper
• Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV1.7 sodium channels

  2014cites this paper
• Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia

  2014cites this paper
• The role of the blood–brain barrier in the development and treatment of migraine and other pain disorders

  2014cites this paper
• Painful and painless channelopathies.

  2014cites this paper
• Small fiber neuropathy and sodium channels : a paradigm shift

  2014cites this paper
• Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

  2014cites this paper
• Aspirin Resistant Autosomal Dominant Familial Erythermalgia: A Congenital Incurable Neuropathic Disorder Caused by a Gain of Function Mutation in Exon 26 of the SCN9a Gene on Chromosome 2q24.3

  2014cites this paper
• Upregulation of Nav1.7 Through High Salt Loading

  2014cites this paper
• A Rare Case of Erythromelalgia in a Young Male Patient

  2013cites this paper
• Skin Matters: Identifying Pain Mechanisms and Predicting Treatment Outcomes

  2013cites this paper
• Inherited Pain

  2013cites this paper
• Linkage between Increased Nociception and Olfaction via a SCN9A Haplotype

  2013cites this paper
• A new Nav1.7 mutation in an erythromelalgia patient.

  2013cites this paper
• NaV1.7: Stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus

  2013cites this paper
• SCN9A-Related Inherited Erythromelalgia

  2013cites this paper
• Shellfish Toxins Targeting Voltage-Gated Sodium Channels

  2013cites this paper
• Pharmacogenetics of analgesic drugs

  2013cites this paper
• Extending the clinical spectrum of pain channelopathies.

  2012cites this paper
• Expression of Nav1.7 in DRG neurons extends from peripheral terminals in the skin to central preterminal branches and terminals in the dorsal horn

  2012cites this paper
• Menthol pain relief through cumulative inactivation of voltage‐gated sodium channels

  2012cites this paper
• Conus Venom Peptide Pharmacology

  2012cites this paper
• Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

  2012cites this paper
• Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel

  2012cites this paper
• Genetic aspects of sodium channelopathy in small fiber neuropathy

  2012cites this paper
• Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling

  2012cites this paper
• Sodium Channel Nav1.7 Is Essential for Lowering Heat Pain Threshold after Burn Injury

  2012cites this paper
• Extending the clinical spectrum of pain channelopathies

  2012cites this paper
• The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

  2012cites this paper
• Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period.

  2012cites this paper
• The molecular pathogenesis of primary erythromelalgia, a painful inherited syndrome - An update A Literature Review

  2012cites this paper
• Biophysical characterization of neuronal and skeletal muscle sodium channels, and their regulation by auxiliary beta subunits

  2012cites this paper
• Mechanisms of neuropathic pain.

  2012cites this paper
• Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.

  2011cites this paper