Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
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Primary erythromelalgia: a reviewUpregulation of nav1.7 through high salt loading: (mol pain 2013;9:39)Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disordersA novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockersNav1.7 is the predominant sodium channel in rodent olfactory sensory neurons.Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent.SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling.Network topology of NaV1.7 mutations in sodium channel-related painful disorders.Novel insights on diagnosis, cause and treatment of diabetic neuropathy: focus on painful diabetic neuropathyInfrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgiaAdvanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.Nature and nurture of human pain.Subtype-selective targeting of voltage-gated sodium channels.Neurological channelopathies: new insights into disease mechanisms and ion channel function.Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.A hot topic: temperature sensitive sodium channelopathies.An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.Genotype phenotype associations across the voltage-gated sodium channel family.Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development.A new Nav1.7 sodium channel mutation I234T in a child with severe pain.Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability.Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus.Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.Neuropathic pain in children.Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.Nonlinear effects of hyperpolarizing shifts in activation of mutant Nav1.7 channels on resting membrane potential.Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.Kinetic modeling of Nav1.7 provides insight into erythromelalgia-associated F1449V mutation.Erythromelalgia: a cutaneous manifestation of neuropathy?Genetic studies of human neuropathic pain conditions: a review.
P2860
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P2860
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@en
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@nl
type
label
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@en
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@nl
prefLabel
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@en
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@nl
P2093
P2860
P356
P1433
P1476
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
@en
P2093
Chongyang Han
Emmanuella M Eastman
Lynda Tyrrell
Stephen G Waxman
Sulayman D Dib-Hajj
Xianwei Cao
Zhimiao Lin
P2860
P304
P356
10.1093/BRAIN/AWP078
P407
P577
2009-04-15T00:00:00Z