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
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
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
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
Histamine Sensitization of the Voltage-Gated Sodium Channel Nav1.7 Contributes to Histaminergic Itch in Mice.
Li S et al.
Acs Chemical Neuroscience, 2022
Hydropathicity-based prediction of pain-causing NaV1.7 variants.
Xenakis MN et al.
Bmc Bioinformatics, 2021
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene.
Nwebube C et al.
Neurology. Genetics, 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
Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia.
Wang WH et al.
Journal of Vascular Surgery, 2018
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
[Erythromelalgia: Diagnosis and therapeutic approach].
Miranda S et al.
La Revue De Medecine Interne, 2017
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
Kapetis D et al.
Bmc Systems Biology, 2017
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
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Suter MR et al.
Anesthesiology, 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
Neurological perspectives on voltage-gated sodium channels.
Eijkelkamp N et al.
Brain : a Journal of Neurology, 2012
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
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
Fischer TZ et al.
Annals of Neurology, 2009