Associated Papers
Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.
Li Y et al.
The Journal of Investigative Dermatology, 2026
Role of mutation G255A in modulating pyrethroid sensitivity in insect sodium channels.
Liu K et al.
International Journal of Biological Macromolecules, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Marchi M et al.
Pain, 2023
Clinical Challenges in Primary Erythromelalgia: a Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal.
Michelerio A et al.
Dermatology Practical & Conceptual, 2023
Stem cell-derived sensory neurons modelling inherited erythromelalgia: normalization of excitability.
Alsaloum M et al.
Brain : a Journal of Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.
Huang G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review.
Feng S et al.
Frontiers in Pediatrics, 2022
Hydropathicity-based prediction of pain-causing NaV1.7 variants.
Xenakis MN et al.
Bmc Bioinformatics, 2021
KCNQ variants and pain modulation: a missense variant in Kv7.3 contributes to pain resilience.
Yuan JH et al.
Brain Communications, 2021
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.
Toffano AA et al.
Scientific Reports, 2020
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.
Labau JIR et al.
Brain : a Journal of Neurology, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp.
Mis MA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
The Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.
Han C et al.
Molecular Pharmacology, 2018
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.
Yang Y et al.
British Journal of Pharmacology, 2018
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Nonlinear effects of hyperpolarizing shifts in activation of mutant Nav1.7 channels on resting membrane potential.
Estacion M et al.
Journal of Neurophysiology, 2017
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
Kapetis D et al.
Bmc Systems Biology, 2017
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.
Geha P et al.
Jama Neurology, 2016
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia.
Cao L et al.
Science Translational Medicine, 2016
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
McDonnell A et al.
Brain : a Journal of Neurology, 2016
Modulation of human Nav1.7 channel gating by synthetic α-scorpion toxin OD1 and its analogs.
Motin L et al.
Channels (austin, Tex.), 2016
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.
Cannon A et al.
Case Reports in Neurological Medicine, 2016
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
Emery EC et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.
Cregg R et al.
British Journal of Pharmacology, 2014
Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.
Lampert A et al.
Handbook of Experimental Pharmacology, 2014
A new Nav1.7 mutation in an erythromelalgia patient.
Estacion M et al.
Biochemical and Biophysical Research Communications, 2013
The Na(V)1.7 sodium channel: from molecule to man.
Dib-Hajj SD et al.
Nature Reviews. Neuroscience, 2013
A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.
Wu MT et al.
Plos One, 2013
Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.
Skeik N et al.
Vascular Medicine (london, England), 2012
Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
Yang Y et al.
Nature Communications, 2012
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype.
Blasius AL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
A new Nav1.7 sodium channel mutation I234T in a child with severe pain.
Ahn HS et al.
European Journal of Pain (london, England), 2010
Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.
Cheng X et al.
Molecular Pain, 2010
Pain perception is altered by a nucleotide polymorphism in SCN9A.
Reimann F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Familial pain syndromes from mutations of the NaV1.7 sodium channel.
Fischer TZ et al.
Annals of the New York Academy of Sciences, 2010
Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.
Schorge S et al.
Brain : a Journal of Neurology, 2009
Voltage-gated sodium channels in pain states: role in pathophysiology and targets for treatment.
Dib-Hajj SD et al.
Brain Research Reviews, 2009
Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
Catterall WA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.
Cheng X et al.
Molecular Pain, 2008
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
Drenth JP et al.
The Journal of Clinical Investigation, 2007
A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity.
Sheets PL et al.
The Journal of Physiology, 2007
Mutation hotspots of SCN9A in primary erythermalgia.
Zhang LL et al.
The British Journal of Dermatology, 2007
A case of inherited erythromelalgia.
Novella SP et al.
Nature Clinical Practice. Neurology, 2007
Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.
Lampert A et al.
The Journal of Biological Chemistry, 2006
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
Michiels JJ et al.
Archives of Neurology, 2005