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
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
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
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
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia.
Tham SW et al.
Bmj Case Reports, 2017
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
Kapetis D et al.
Bmc Systems Biology, 2017
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
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
Autonomic dysfunction in SCN9A-associated primary erythromelalgia.
Kim MK et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 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
Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
Estacion M et al.
Molecular Pain, 2011
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
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
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.
Estacion M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Voltage-dependent Na(v)1.7 sodium channels: multiple roles in adrenal chromaffin cells and peripheral nervous system.
Wada A et al.
Acta Physiologica (oxford, England), 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
[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].
Drenth JP et al.
Nederlands Tijdschrift Voor Geneeskunde, 2006
Erythermalgia: molecular basis for an inherited pain syndrome.
Waxman SG et al.
Trends in Molecular Medicine, 2005
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
Drenth JP et al.
The Journal of Investigative Dermatology, 2005