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
SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.
Ghanty I et al.
Epilepsia, 2025
ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.
Zhang L et al.
Bmc Oral Health, 2025
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.
Noguchi A et al.
International Journal of Molecular Sciences, 2024
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
E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current.
Takahashi K et al.
Heliyon, 2021
No association between SCN9A and monogenic human epilepsy disorders.
Fasham J et al.
Plos Genetics, 2020
Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.
Zhang T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.
Janicki PK et al.
Cureus, 2019
Genetic characteristics of non-familial epilepsy.
Kang KW et al.
Peerj, 2019
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus.
Cen Z et al.
Seizure, 2017
Nonlinear effects of hyperpolarizing shifts in activation of mutant Nav1.7 channels on resting membrane potential.
Estacion M et al.
Journal of Neurophysiology, 2017
[Erythromelalgia: Diagnosis and therapeutic approach].
Miranda S et al.
La Revue De Medecine Interne, 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
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
Imai N et al.
The Journal of Headache and Pain, 2015
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
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
Klein CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.
Choi JS et al.
Brain : a Journal of Neurology, 2010
A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.
Estacion M et al.
Annals of Neurology, 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
[Analysis of the families and the clinical phenotypes of the generalized epilepsy associated with adjunct febrile seizure].
Chen X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
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