Associated Papers
Charcot-Marie-Tooth disease and related neuropathies.
Burns J et al.
Nature Reviews. Disease Primers, 2026
Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.
Nagao C et al.
Biochemical Genetics, 2025
A robust expression system reveals distinct gating mechanisms and calmodulin regulation of NaV1.9 channels.
Theys M et al.
Science Advances, 2025
Na V 1.8/Na V 1.9 double deletion mildly affects acute pain responses in mice.
Alves-Simões M et al.
Pain, 2025
Multiple gating processes associated with the distal end of the S6 segment of domain II in the Nav channels.
Chen M et al.
The Journal of Biological Chemistry, 2025
The COL6A5-p.Glu2272* mutation induces chronic itch in mice.
Rasheed AAB et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2024
Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
Wimalasena NK et al.
Experimental Neurology, 2023
Inhibition of the Human Neuronal Sodium Channel Nav1.9 by Arachidonyl-2-Chloroethylamide, An Analogue of Anandamide in a hNav1.9/rNav1.4 Chimera, An Experimental and in Silico Study.
Marchese-Rojas M et al.
Neuroscience, 2023
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Understanding the genetic basis of congenital insensitivity to pain.
Drissi I et al.
British Medical Bulletin, 2020
Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels.
Zhou X et al.
Nature Communications, 2020
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice.
Ebbinghaus M et al.
Plos One, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.
Huang J et al.
Frontiers in Neuroscience, 2019
A disease mutation reveals a role for NaV1.9 in acute itch.
Salvatierra J et al.
The Journal of Clinical Investigation, 2018
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.
Castoro R et al.
Neurology. Genetics, 2018
Translational Model Systems for Complex Sodium Channel Pathophysiology in Pain.
Schrenk-Siemens K et al.
Handbook of Experimental Pharmacology, 2018
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.
Sambuughin N et al.
Case Reports in Genetics, 2018
Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R et al.
Plos One, 2018
SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients.
Sun J et al.
Medicine, 2017
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.
King MK et al.
Neurogenetics, 2017
Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.
Huang J et al.
The Journal of Clinical Investigation, 2017
Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.
Leng XR et al.
Journal of Human Genetics, 2017
Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).
Noguchi A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2017
[Pain and analgesia : Mutations of voltage-gated sodium channels].
Eberhardt MJ et al.
Schmerz (berlin, Germany), 2017
Voltage-gated sodium channels and pain-related disorders.
Kanellopoulos AH et al.
Clinical Science (london, England : 1979), 2016
Ion channelopathies in functional GI disorders.
Beyder A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief.
Emery EC et al.
Expert Opinion on Therapeutic Targets, 2016
Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.
Phatarakijnirund V et al.
Bone, 2016
Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.
Okuda H et al.
Plos One, 2016
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold E et al.
Nature Communications, 2015
Heterologous expression of NaV1.9 chimeras in various cell systems.
Goral RO et al.
Pflugers Archiv : European Journal of Physiology, 2015
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
NaV1.9: a sodium channel linked to human pain.
Dib-Hajj SD et al.
Nature Reviews. Neuroscience, 2015
[Sensory and autonomic neuropathies and pain-related channelopathies].
Kurth I
Schmerz (berlin, Germany), 2015
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
Woods CG et al.
European Journal of Human Genetics : Ejhg, 2015
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
Huang J et al.
Brain : a Journal of Neurology, 2014
Voltage-gated sodium channel mutations and painful neuropathy: Na(v)1.9 joins the family.
Bennett DL
Brain : a Journal of Neurology, 2014
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E et al.
Nature Genetics, 2013
Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation.
Poojary S et al.
Indian Journal of Dermatology, 0