{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:45:50Z","timestamp":1780317950741,"version":"3.54.1"},"reference-count":111,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873467"],"award-info":[{"award-number":["81873467"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670240"],"award-info":[{"award-number":["81670240"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1016\/j.jid.2025.07.034","type":"journal-article","created":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T20:43:25Z","timestamp":1762289005000},"page":"328-344","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide"],"prefix":"10.1016","volume":"146","author":[{"given":"Yijing","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhigang","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbo","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangyou","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixiao","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6644-151X","authenticated-orcid":false,"given":"Hongbing","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2025.07.034_bib1","doi-asserted-by":"crossref","DOI":"10.1177\/1744806918815007","article-title":"A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy","volume":"14","author":"Adi","year":"2018","journal-title":"Mol Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib2","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.ejpain.2010.03.007","article-title":"A new Nav1.7 sodium channel mutation I234T in a child with severe pain","volume":"14","author":"Ahn","year":"2010","journal-title":"Eur J Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1177\/1073858416628793","article-title":"The anti-allodynic gabapentinoids: myths, paradoxes, and acute effects","volume":"23","author":"Alles","year":"2017","journal-title":"Neuroscientist"},{"key":"10.1016\/j.jid.2025.07.034_bib4","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jpeds.2018.10.024","article-title":"Pediatric erythromelalgia and SCN9A mutations: systematic review and single-center case series","volume":"206","author":"Arthur","year":"2019","journal-title":"J Pediatr"},{"key":"10.1016\/j.jid.2025.07.034_bib5","first-page":"V31","article-title":"Not another presentation of cellulitis: a case report of erythromelalgia","volume":"7","author":"Assaf","year":"2022","journal-title":"J Educ Teach Emerg Med"},{"key":"10.1016\/j.jid.2025.07.034_bib6","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajem.2022.01.044","article-title":"Neurologic toxicity of carbamazepine in treatment of trigeminal neuralgia","volume":"55","author":"Bridwell","year":"2022","journal-title":"Am J Emerg Med"},{"key":"10.1016\/j.jid.2025.07.034_bib7","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/j.1365-2133.2005.06441.x","article-title":"Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia","volume":"153","author":"Burns","year":"2005","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib8","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1093\/pm\/pnab248","article-title":"Interventions for depressive symptoms in people living with chronic pain: a systematic review of meta-analyses","volume":"23","author":"Cheng","year":"2022","journal-title":"Pain Med"},{"key":"10.1016\/j.jid.2025.07.034_bib9","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1093\/brain\/awr143","article-title":"Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability","volume":"134","author":"Cheng","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1744-8069-4-1","article-title":"Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade","volume":"4","author":"Cheng","year":"2008","journal-title":"Mol Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib11","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1744-8069-6-24","article-title":"Mutations at opposite ends of the DIII\/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders","volume":"6","author":"Cheng","year":"2010","journal-title":"Mol Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib12","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1093\/brain\/awq114","article-title":"Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia","volume":"133","author":"Choi","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib13","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1212\/01.wnl.0000231514.33603.1e","article-title":"Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy","volume":"67","author":"Choi","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.jid.2025.07.034_bib14","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.expneurol.2008.12.012","article-title":"Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off","volume":"216","author":"Choi","year":"2009","journal-title":"Exp Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib15","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1111\/papr.13370","article-title":"Treating neuropathic pain and comorbid affective disorders: preclinical and clinical evidence","volume":"24","author":"Coelho","year":"2024","journal-title":"Pain Pract"},{"key":"10.1016\/j.jid.2025.07.034_bib16","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.jaad.2011.01.010","article-title":"Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period","volume":"66","author":"Cook-Norris","year":"2012","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib17","doi-asserted-by":"crossref","first-page":"4455","DOI":"10.1111\/bph.12788","article-title":"Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels","volume":"171","author":"Cregg","year":"2014","journal-title":"Br J Pharmacol"},{"key":"10.1016\/j.jid.2025.07.034_bib18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s12017-012-8216-8","article-title":"Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia","volume":"15","author":"Cregg","year":"2013","journal-title":"NeuroMolecular Med"},{"key":"10.1016\/j.jid.2025.07.034_bib19","first-page":"15","article-title":"Primary erythromelalgia caused by SCN9A gene mutation: A case report and literature review","volume":"31","author":"Cuicui","year":"2024","journal-title":"J Diagn Treat Skin Sex Transm Dis"},{"key":"10.1016\/j.jid.2025.07.034_bib20","doi-asserted-by":"crossref","first-page":"8232","DOI":"10.1523\/JNEUROSCI.2695-04.2004","article-title":"Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy","volume":"24","author":"Cummins","year":"2004","journal-title":"J Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib21","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.tips.2007.03.005","article-title":"Functional biology of the alpha(2)delta subunits of voltage-gated calcium channels","volume":"28","author":"Davies","year":"2007","journal-title":"Trends Pharmacol Sci"},{"key":"10.1016\/j.jid.2025.07.034_bib22","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1001\/archderm.136.3.330","article-title":"Natural history of erythromelalgia: presentation and outcome in 168 patients","volume":"136","author":"Davis","year":"2000","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib23","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1046\/j.1523-1747.2000.0202a-8.x","article-title":"Mechanisms other than shunting are likely contributing to the pathophysiology of erythromelalgia","volume":"115","author":"Davis","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib24","doi-asserted-by":"crossref","first-page":"298","DOI":"10.4065\/79.3.298","article-title":"Erythromelalgia","volume":"79","author":"Davis","year":"2004","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.jid.2025.07.034_bib25","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/brain\/awh514","article-title":"Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons","volume":"128","author":"Dib-Hajj","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib27","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nrn3404","article-title":"The Na(V)1.7 sodium channel: from molecule to man","volume":"14","author":"Dib-Hajj","year":"2013","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib28","first-page":"53","article-title":"One case of primary erythermalgia treated with acupuncture","volume":"48","author":"Dong","year":"2017","journal-title":"Jiangxi Trad Chin Med"},{"key":"10.1016\/j.jid.2025.07.034_bib29","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1086\/320107","article-title":"The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32","volume":"68","author":"Drenth","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2025.07.034_bib30","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1111\/j.1365-4362.1994.tb04037.x","article-title":"Erythromelalgia and erythermalgia: diagnostic differentiation","volume":"33","author":"Drenth","year":"1994","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib31","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1111\/j.0022-202X.2005.23737.x","article-title":"SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels","volume":"124","author":"Drenth","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib32","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1001\/archderm.144.3.320","article-title":"Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A","volume":"144","author":"Drenth","year":"2008","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib33","doi-asserted-by":"crossref","first-page":"3603","DOI":"10.1172\/JCI33297","article-title":"Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders","volume":"117","author":"Drenth","year":"2007","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jid.2025.07.034_bib34","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1001\/archdermatol.2008.515","article-title":"Intervention for erythromelalgia, a chronic pain syndrome: comprehensive pain rehabilitation center, Mayo Clinic","volume":"144","author":"Durosaro","year":"2008","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib35","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1074\/jbc.M113.502211","article-title":"Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation","volume":"289","author":"Eberhardt","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jid.2025.07.034_bib36","doi-asserted-by":"crossref","first-page":"7674","DOI":"10.1523\/JNEUROSCI.3935-14.2015","article-title":"Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations","volume":"35","author":"Emery","year":"2015","journal-title":"J Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib37","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1113\/jphysiol.2009.186114","article-title":"Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation","volume":"588","author":"Estacion","year":"2010","journal-title":"J Physiol"},{"key":"10.1016\/j.jid.2025.07.034_bib38","doi-asserted-by":"crossref","first-page":"11079","DOI":"10.1523\/JNEUROSCI.3443-08.2008","article-title":"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","volume":"28","author":"Estacion","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib39","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.bbrc.2013.01.079","article-title":"A new Nav1.7 mutation in an erythromelalgia patient","volume":"432","author":"Estacion","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jid.2025.07.034_bib40","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.796149","article-title":"Primary erythromelalgia mainly manifested by hypertensive crisis: a case report and literature review","volume":"10","author":"Feng","year":"2022","journal-title":"Front Pediatr"},{"key":"10.1016\/j.jid.2025.07.034_bib41","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1111\/j.1468-3083.2006.02039.x","article-title":"Treatment of familial erythromelalgia with venlafaxine","volume":"21","author":"Firmin","year":"2007","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.jid.2025.07.034_bib42","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/ana.21678","article-title":"A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia","volume":"65","author":"Fischer","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib43","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1001\/jamaneurol.2016.0389","article-title":"Pharmacotherapy for pain in a family with inherited erythromelalgia guided by genomic analysis and functional profiling","volume":"73","author":"Geha","year":"2016","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib44","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1152\/jn.00457.2022","article-title":"Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons","volume":"129","author":"Ghovanloo","year":"2023","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.jid.2025.07.034_bib45","doi-asserted-by":"crossref","DOI":"10.5070\/D3234034637","article-title":"Erythromelalgia involving the face","volume":"23","author":"Gilmore","year":"2017","journal-title":"Dermatol Online J"},{"key":"10.1016\/j.jid.2025.07.034_bib46","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.pain.2011.09.008","article-title":"Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker","volume":"153","author":"Goldberg","year":"2012","journal-title":"Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib47","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1111\/bjd.16654","article-title":"Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report","volume":"179","author":"Greco","year":"2018","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib48","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1093\/brain\/awp078","article-title":"Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation","volume":"132","author":"Han","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib49","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ana.20776","article-title":"Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7","volume":"59","author":"Han","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib50","doi-asserted-by":"crossref","first-page":"12566","DOI":"10.1523\/JNEUROSCI.3424-06.2006","article-title":"Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons","volume":"26","author":"Harty","year":"2006","journal-title":"J Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-biophys-120121-074034","article-title":"A life of biophysics","volume":"51","author":"Hille","year":"2022","journal-title":"Annu Rev Biophys"},{"key":"10.1016\/j.jid.2025.07.034_bib52","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1124\/molpharm.120.000079","article-title":"Characterization of Vixotrigine, a broad-spectrum voltage-gated sodium channel blocker","volume":"99","author":"Hinckley","year":"2021","journal-title":"Mol Pharmacol"},{"key":"10.1016\/j.jid.2025.07.034_bib53","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/brain\/awr349","article-title":"Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation","volume":"135","author":"Hoeijmakers","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib54","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1002561","article-title":"The biophysical basis underlying gating changes in the p.V1316A mutant Nav1.7 channel and the molecular pathogenesis of inherited erythromelalgia","volume":"14","author":"Huang","year":"2016","journal-title":"PLoS Biol"},{"key":"10.1016\/j.jid.2025.07.034_bib55","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1016\/j.jdcr.2019.07.007","article-title":"Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by SCN9A mutation","volume":"5","author":"Ito","year":"2019","journal-title":"JAAD Case Rep"},{"key":"10.1016\/j.jid.2025.07.034_bib56","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1111\/j.1365-2133.2004.06167.x","article-title":"A case of primary erythromelalgia improved by mexiletine","volume":"151","author":"Jang","year":"2004","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib57","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.jaapos.2015.05.015","article-title":"Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder","volume":"19","author":"Kim","year":"2015","journal-title":"J AAPOS"},{"key":"10.1016\/j.jid.2025.07.034_bib58","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s10286-012-0181-7","article-title":"Autonomic dysfunction in SCN9A-associated primary erythromelalgia","volume":"23","author":"Kim","year":"2013","journal-title":"Clin Auton Res"},{"key":"10.1016\/j.jid.2025.07.034_bib59","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1136\/jnnp-2012-303719","article-title":"Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia","volume":"84","author":"Klein","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jid.2025.07.034_bib60","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.bbrc.2009.09.121","article-title":"Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials","volume":"390","author":"Lampert","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jid.2025.07.034_bib61","doi-asserted-by":"crossref","first-page":"36029","DOI":"10.1074\/jbc.M607637200","article-title":"Size matters: erythromelalgia mutation S241T in Nav1.7 alters channel gating","volume":"281","author":"Lampert","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jid.2025.07.034_bib62","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/s00415-006-0328-3","article-title":"Characterization of a familial case with primary erythromelalgia from Taiwan","volume":"254","author":"Lee","year":"2007","journal-title":"J Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib63","doi-asserted-by":"crossref","first-page":"e313","DOI":"10.1111\/j.1365-2230.2009.03265.x","article-title":"A case of primary erythermalgia with prurigo","volume":"34","author":"Li","year":"2009","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib64","first-page":"267","article-title":"Study on SCN9A gene mutations in primary erythermalgia","volume":"18","author":"Long","year":"2011","journal-title":"Chin J Fundam Clin Pract Gen Surg"},{"key":"10.1016\/j.jid.2025.07.034_bib65","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.mayocp.2022.08.005","article-title":"Erythromelalgia: a review of medical management options and our approach to management","volume":"98","author":"Ma","year":"2023","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.jid.2025.07.034_bib66","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1093\/brain\/aww007","article-title":"Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile","volume":"139","author":"McDonnell","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.jid.2025.07.034_bib67","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/mus.23968","article-title":"An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder","volume":"49","author":"Meijer","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jid.2025.07.034_bib68","article-title":"Clinical challenges in primary erythromelalgia: a real-life experience from a Single Center and a diagnostic-therapeutic flow-chart proposal","volume":"13","author":"Michelerio","year":"2023","journal-title":"Dermatol Pract Concept"},{"key":"10.1016\/j.jid.2025.07.034_bib69","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1001\/archneur.62.10.1587","article-title":"Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7","volume":"62","author":"Michiels","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib70","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1111\/j.1468-3083.2007.02265.x","article-title":"Severe neurological complications of hereditary erythermalgia","volume":"21","author":"Misery","year":"2007","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.jid.2025.07.034_bib71","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1046\/j.1523-1747.2000.00944.x","article-title":"Microvascular arteriovenous shunting is a probable pathogenetic mechanism in erythromelalgia","volume":"114","author":"Mork","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib72","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1097\/j.pain.0000000000000229","article-title":"Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7","volume":"156","author":"Namer","year":"2015","journal-title":"Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib73","doi-asserted-by":"crossref","first-page":"e504","DOI":"10.1542\/peds.2004-1395","article-title":"Primary erythromelalgia in a child responding to intravenous lidocaine and oral mexiletine treatment","volume":"115","author":"Nathan","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.jid.2025.07.034_bib74","doi-asserted-by":"crossref","first-page":"e640","DOI":"10.1111\/j.1365-2230.2009.03355.x","article-title":"Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel","volume":"34","author":"Natkunarajah","year":"2009","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib75","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ncpneuro0425","article-title":"A case of inherited erythromelalgia","volume":"3","author":"Novella","year":"2007","journal-title":"Nat Clin Pract Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib76","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000570","article-title":"Erythromelalgia: A child with V400M mutation in the SCN9A gene","volume":"7","author":"Nwebube","year":"2021","journal-title":"Neurol Genet"},{"key":"10.1016\/j.jid.2025.07.034_bib77","doi-asserted-by":"crossref","DOI":"10.1111\/dth.15860","article-title":"Topical treatments for erythromelalgia","volume":"35","author":"Raef","year":"2022","journal-title":"Dermatol Ther"},{"key":"10.1016\/j.jid.2025.07.034_bib78","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1097\/j.pain.0000000000001838","article-title":"Bonica Award Lecture: peripheral neuronal hyperexcitability: the \"low-hanging\" target for safe therapeutic strategies in neuropathic pain","volume":"161","author":"Raja","year":"2020","journal-title":"Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib79","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s11916-023-01125-2","article-title":"Cultural framing and the impact on acute pain and pain services","volume":"27","author":"Rogger","year":"2023","journal-title":"Curr Pain Headache Rep"},{"key":"10.1016\/j.jid.2025.07.034_bib80","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1113\/jphysiol.2006.121483","article-title":"Multiple sodium channels and their roles in electrogenesis within dorsal root ganglion neurons","volume":"579","author":"Rush","year":"2007","journal-title":"J Physiol"},{"key":"10.1016\/j.jid.2025.07.034_bib81","doi-asserted-by":"crossref","first-page":"8245","DOI":"10.1073\/pnas.0602813103","article-title":"A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons","volume":"103","author":"Rush","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jid.2025.07.034_bib82","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.pain.2011.12.012","article-title":"Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling","volume":"153","author":"Segerdahl","year":"2012","journal-title":"Pain"},{"key":"10.1016\/j.jid.2025.07.034_bib83","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1007\/s00415-009-5188-1","article-title":"A case of primary erythermalgia with encephalopathy","volume":"256","author":"Seneschal","year":"2009","journal-title":"J Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib84","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1113\/jphysiol.2006.127027","article-title":"A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity","volume":"581","author":"Sheets","year":"2007","journal-title":"J Physiol"},{"key":"10.1016\/j.jid.2025.07.034_bib85","first-page":"1119","article-title":"A case of postoperative continuous analgesic treatment in a child with erythermalgia","volume":"39","author":"Shuzhen","year":"2023","journal-title":"J Clin Anesthesiol"},{"key":"10.1016\/j.jid.2025.07.034_bib86","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1177\/1358863X11422584","article-title":"Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation","volume":"17","author":"Skeik","year":"2012","journal-title":"Vasc Med"},{"key":"10.1016\/j.jid.2025.07.034_bib87","first-page":"72","article-title":"SCN9A gene mutation in a primary erythermalgia pedigree","author":"Song","year":"2005","journal-title":"J Clin Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib88","doi-asserted-by":"crossref","first-page":"6316","DOI":"10.1074\/jbc.M114.605899","article-title":"Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7","volume":"290","author":"Stadler","year":"2015","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jid.2025.07.034_bib89","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1055\/s-2007-990265","article-title":"A case of primary erythermalgia, wintry hypothermia and encephalopathy","volume":"38","author":"Takahashi","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jid.2025.07.034_bib90","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.11607\/ofph.1793","article-title":"Clinical characteristics, pain, and quality of life experiences of trigeminal neuralgia in a multi-ethnic Asian Cohort","volume":"31","author":"Tan","year":"2017","journal-title":"J Oral Facial Pain Headache"},{"key":"10.1016\/j.jid.2025.07.034_bib91","doi-asserted-by":"crossref","first-page":"9262","DOI":"10.1074\/jbc.M117.778779","article-title":"Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development","volume":"292","author":"Tanaka","year":"2017","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jid.2025.07.034_bib92","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2017-219486","article-title":"Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia","volume":"2017","author":"Tham","year":"2017","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.jid.2025.07.034_bib93","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1097\/00003086-197910000-00042","article-title":"Erythromelalgia","volume":"144","author":"Thompson","year":"1979","journal-title":"Clin Orthop Relat Res"},{"key":"10.1016\/j.jid.2025.07.034_bib94","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1152\/jn.00763.2013","article-title":"Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H","volume":"111","author":"Vasylyev","year":"2014","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.jid.2025.07.034_bib95","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1016\/j.jvs.2018.05.226","article-title":"Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia","volume":"68","author":"Wang","year":"2018","journal-title":"J Vasc Surg"},{"key":"10.1016\/j.jid.2025.07.034_bib96","article-title":"Comparison of gating properties and use-dependent block of Nav1.5 and Nav1.7 channels by anti-arrhythmics mexiletine and lidocaine","volume":"10","author":"Wang","year":"2015","journal-title":"PLOS One"},{"key":"10.1016\/j.jid.2025.07.034_bib97","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.jaad.2022.04.020","article-title":"A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study","volume":"87","author":"Wang","year":"2022","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib98","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1111\/1346-8138.16754","article-title":"A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation","volume":"50","author":"Watabe","year":"2023","journal-title":"J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib99","first-page":"450","article-title":"A novel SCN9A mutation (F826Y) in primary erythromelalgia alters the excitability of Nav1.7","volume":"17","author":"Wu","year":"2017","journal-title":"Curr Mol Med"},{"key":"10.1016\/j.jid.2025.07.034_bib100","article-title":"A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers","volume":"8","author":"Wu","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2025.07.034_bib101","first-page":"984","article-title":"A case report of primary erythermalgia and literature review","volume":"30","author":"Xiaoyu","year":"2012","journal-title":"J Clin Pediatr"},{"key":"10.1016\/j.jid.2025.07.034_bib102","first-page":"370","article-title":"Nursing care of a patient with primary erythermalgia with skin infection","volume":"15","author":"Xuan","year":"2022","journal-title":"J Pract Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib103","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1111\/bph.13935","article-title":"Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T","volume":"175","author":"Yang","year":"2018","journal-title":"Br J Pharmacol"},{"key":"10.1016\/j.jid.2025.07.034_bib104","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/ncomms2184","article-title":"Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel","volume":"3","author":"Yang","year":"2012","journal-title":"Nat Commun"},{"key":"10.1016\/j.jid.2025.07.034_bib105","doi-asserted-by":"crossref","first-page":"7511","DOI":"10.1523\/JNEUROSCI.0462-16.2016","article-title":"Nav1.7-A1632G mutation from a family with inherited erythromelalgia: enhanced firing of dorsal root ganglia neurons evoked by thermal stimuli","volume":"36","author":"Yang","year":"2016","journal-title":"J Neurosci"},{"key":"10.1016\/j.jid.2025.07.034_bib106","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jmg.2003.012153","article-title":"Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia","volume":"41","author":"Yang","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.jid.2025.07.034_bib107","first-page":"529","article-title":"A case report of primary erythermalgia in a child diagnosed by gene analysis","volume":"47","author":"Yan-han","year":"2019","journal-title":"Tianjin Med J"},{"key":"10.1016\/j.jid.2025.07.034_bib108","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1111\/jns.12590","article-title":"Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders","volume":"28","author":"Yuan","year":"2023","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.jid.2025.07.034_bib109","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/j.1365-2133.2006.07727.x","article-title":"Mutation hotspots of SCN9A in primary erythermalgia","volume":"156","author":"Zhang","year":"2007","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.07.034_bib111","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1143241","article-title":"Case report: spinal cord stimulation in the treatment of pediatric erythromelalgia","volume":"14","author":"Zuo","year":"2023","journal-title":"Front Neurol"},{"key":"10.1016\/j.jid.2025.07.034_bib112","article-title":"Severe pediatric erythromelalgia: a case report on multimodal pain management and the role of regional anesthesia","volume":"16","author":"Zyani","year":"2024","journal-title":"Cureus"},{"key":"10.1016\/j.jid.2025.07.034_bib110","first-page":"506","article-title":"Mutations of SCN9A gene in five patients with primary erythermalgia","volume":"37","author":"Zhimiao","year":"2008","journal-title":"J Clin Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X2502398X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X2502398X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:24:45Z","timestamp":1773923085000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X2502398X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":111,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["S0022202X2502398X"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2025.07.034","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2025.07.034","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}