Associated Papers
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.
Yang L et al.
Pain, 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
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
Voltage-gated sodium channels and pain-related disorders.
Kanellopoulos AH et al.
Clinical Science (london, England : 1979), 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
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