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
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.
Åkerlund M et al.
Pain, 2025
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene - Case report and own experiences.
Szczupak M et al.
Frontiers in Neurology, 2024
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Almomani R et al.
International Journal of Molecular Sciences, 2023
Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond.
Chan ACY et al.
Muscle & Nerve, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC et al.
Brain Communications, 2023
Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.
Yao Y et al.
Experimental and Therapeutic Medicine, 2022
Pain triangle phenomenon in possible association with SCN9A: A case report.
Sopacua M et al.
Molecular Genetics & Genomic Medicine, 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
The Human SCN9A R185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice.
Xue Y et al.
Frontiers in Molecular Neuroscience, 2022
No evidence that SCN9A variants are associated with epilepsy.
Brunklaus A
Seizure, 2021
Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).
Ma H et al.
Seizure, 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
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Small-fiber neuropathy: Expanding the clinical pain universe.
Sopacua M et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.
Loke MF et al.
Journal of Pain Research, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.
Blesneac I et al.
Pain, 2018
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
Rubinstein M et al.
Molecular Psychiatry, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
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
Painful peripheral neuropathy and sodium channel mutations.
Hoeijmakers JG et al.
Neuroscience Letters, 2015
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
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.
Meglič A et al.
Pediatric Nephrology (berlin, Germany), 2014
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA et al.
Journal of the Peripheral Nervous System : Jpns, 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
Genetic aspects of sodium channelopathy in small fiber neuropathy.
Hoeijmakers JG et al.
Clinical Genetics, 2012
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.
Han C et al.
Brain : a Journal of Neurology, 2012
Peripheral neuropathies: Sodium channel variants linked to symptom phenotype in SFN.
Malpass K
Nature Reviews. Neurology, 2012
Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.
Hoeijmakers JG et al.
Nature Reviews. Neurology, 2012
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
Faber CG et al.
Annals of Neurology, 2012
Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.
Goldberg YP et al.
Pain, 2012