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
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Deuis JR et al.
Human Molecular Genetics, 2024
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
Wimalasena NK et al.
Experimental Neurology, 2023
Structural basis for severe pain caused by mutations in the S4-S5 linkers of voltage-gated sodium channel NaV1.7.
Wisedchaisri G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
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
Congenital Insensitivity to Pain: A Case Report With Corneal Esthesiometry and In Vivo Confocal Microscopy.
Keenan JD et al.
Cornea, 2021
Hydropathicity-based prediction of pain-causing NaV1.7 variants.
Xenakis MN et al.
Bmc Bioinformatics, 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
Small-fiber neuropathy: Expanding the clinical pain universe.
Sopacua M et al.
Journal of the Peripheral Nervous System : Jpns, 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
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.
Huang J et al.
Scientific Reports, 2018
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
Kapetis D et al.
Bmc Systems Biology, 2017
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia.
Huang CW et al.
Plos Biology, 2016
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.
Kim DT et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2015
Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.
Eberhardt M et al.
The Journal of Biological Chemistry, 2014
An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.
Meijer IA et al.
Muscle & Nerve, 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
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
Genetic variability of pain perception and treatment--clinical pharmacological implications.
Lötsch J
European Journal of Clinical Pharmacology, 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
A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy.
Adi T et al.
Molecular Pain, 0
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0
Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.
Kerth CM et al.
The Journal of Biological Chemistry, 0