Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
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Primary erythromelalgia: a reviewGlobal Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to painInhibition of Inactive States of Tetrodotoxin-Sensitive Sodium Channels Reduces Spontaneous Firing of C-Fiber Nociceptors and Produces Analgesia in Formalin and Complete Freund's Adjuvant Models of PainFunctional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutationNetwork topology of NaV1.7 mutations in sodium channel-related painful disorders.Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.Development of a Rapid Throughput Assay for Identification of hNav1.7 Antagonist Using Unique Efficacious Sodium Channel Agonist, AntillatoxinNovel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgiaEngineering Highly Potent and Selective Microproteins against Nav1.7 Sodium Channel for Treatment of Pain.CRMP2 protein SUMOylation modulates NaV1.7 channel trafficking.Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgiaTargeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.Genetic aspects of sodium channelopathy in small fiber neuropathy.Mutational consequences of aberrant ion channels in neurological disorders.Translational pain research: Lessons from genetics and genomics.The role of sodium channels in painful diabetic and idiopathic neuropathy.Painful neuropathies: the emerging role of sodium channelopathies.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Exploring pain pathophysiology in patients.Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation.Expression of Nav1.7 in DRG neurons extends from peripheral terminals in the skin to central preterminal branches and terminals in the dorsal horn.Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.NaV channel variants in patients with painful and nonpainful peripheral neuropathy.Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.Hyperexcitable C nociceptors in fibromyalgia.[Pain and analgesia : Mutations of voltage-gated sodium channels].Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorderCRMP2 and voltage-gated ion channels: potential roles in neuropathic pain
P2860
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P2860
Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@ast
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@en
type
label
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@ast
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@en
prefLabel
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@ast
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@en
P2093
P2860
P50
P356
P1433
P1476
Intra- and interfamily phenoty ...... of-function variant of NaV1.7.
@en
P2093
Chongyang Han
Ingemar S J Merkies
Janneke G J Hoeijmakers
Joost P H Drenth
Monique M Gerrits
Stephen G Waxman
Sulayman D Dib-Hajj
P2860
P2888
P356
10.1186/1744-8069-7-92
P577
2011-12-02T00:00:00Z
P5875
P6179
1012215026