Associated Papers
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
Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.
Kulichik OE et al.
International Journal of Molecular Sciences, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Pathological changes of the sural nerve in patients with familial episodic pain syndrome.
Zheng Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
Familial episodic pain syndrome: a case report and literature review.
Zhang P et al.
Annals of Translational Medicine, 2022
Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9.
Matsubara Y et al.
Naunyn-schmiedeberg's Archives of Pharmacology, 2021
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.
Lee SH et al.
Cancers, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.
Castoro R et al.
Neurology. Genetics, 2018
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 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
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
Familial gain-of-function Nav1.9 mutation in a painful channelopathy.
Han C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.
Okuda H et al.
Plos One, 2016
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014