Associated Papers
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family.
Wang B et al.
Neurogenetics, 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
DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.
Marriott H et al.
Bioinformatics (oxford, England), 2023
Familial episodic pain syndrome: a case report and literature review.
Zhang P et al.
Annals of Translational Medicine, 2022
Genomic Markers for Essential Tremor.
Jiménez-Jiménez FJ et al.
Pharmaceuticals (basel, Switzerland), 2021
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
Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.
Yang L et al.
Pain, 2020
[Essential tremor: genetic update].
Deng H et al.
Expert Reviews in Molecular Medicine, 2019
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
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
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
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
NaV1.9: a sodium channel linked to human pain.
Dib-Hajj SD et al.
Nature Reviews. Neuroscience, 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
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Gain-of-function mutations in SCN11A cause familial episodic pain.
Zhang XY et al.
American Journal of Human Genetics, 2013