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
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
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH et al.
Journal of the Peripheral Nervous System : Jpns, 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
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
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 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
Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by SCN9A mutation.
Ito M et al.
Jaad Case Reports, 2019
Anomalous enhancement of resurgent Na+ currents at high temperatures by SCN9A mutations underlies the episodic heat-enhanced pain in inherited erythromelalgia.
Huang CW et al.
Scientific Reports, 2019
[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
A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgia.
Tanaka BS et al.
Molecular Medicine (cambridge, Mass.), 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
Primary erythromelalgia: a review.
Tang Z et al.
Orphanet Journal of Rare Diseases, 2015
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.
Stadler T et al.
The Journal of Biological Chemistry, 2015
Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.
Amarouch MY et al.
Frontiers in Physiology, 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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 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
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
Mulley JC et al.
Epilepsia, 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
Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.
Yuan R et al.
Pain Medicine (malden, Mass.), 2011
Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.
Cheng X et al.
Brain : a Journal of Neurology, 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
Neurological channelopathies: new insights into disease mechanisms and ion channel function.
Kullmann DM et al.
The Journal of Physiology, 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
Voltage-gated sodium channels: therapeutic targets for pain.
Dib-Hajj SD et al.
Pain Medicine (malden, Mass.), 2009
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
Han C et al.
Brain : a Journal of Neurology, 2009
Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.
Schorge S et al.
Brain : a Journal of Neurology, 2009
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
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.
Dib-Hajj SD et al.
Molecular Pain, 2008
Role of the amino and carboxy termini in isoform-specific sodium channel variation.
Lee A et al.
The Journal of Physiology, 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
Characterization of a familial case with primary erythromelalgia from Taiwan.
Lee MJ et al.
Journal of Neurology, 2007
Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.
Jarecki BW et al.
Channels (austin, Tex.), 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