The Na(v)1.7 sodium channel is preferentially expressed in nocioceptive dorsal root ganglion and sympathetic ganglion neurons. Gain-of-function mutations in Na(v)1.7 produce the nocioceptor hyperexcitability underlying inherited erythromelalgia, characterized in most kindreds by early-age onset of severe pain. Here we describe a mutation (Na(v)1.7-G616R) in a pedigree with adult-onset of pain in some family members. The mutation shifts the voltage-dependence of channel fast-inactivation in a depolarizing direction in the adult-long, but not in the neonatal-short splicing isoform of Na(v)1.7 in dorsal root ganglion neurons. Altered inactivation does not depend on the age of the dorsal root ganglion neurons in which the mutant is expressed. E...
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function varia...
The Nav1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-functi...
Dominant gain-of-function mutations that hyperpolarize activation of the Na(v)1.7 sodium channel hav...
Contains fulltext : 88055.pdf (publisher's version ) (Closed access)The Na(v)1.7 s...
Item does not contain fulltextGain-of-function missense mutations of voltage-gated sodium channel Na...
We identified and clinically investigated two patients with primary erythromelalgia mutations (PEM),...
Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain...
The Na(v)1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-func...
Background: Sodium channel Na(V)1.7 is preferentially expressed within dorsal root ganglia (DRG), tr...
Abstract Background Primary erythromelalgia is an autosomal dominant pain disorder characterized by ...
Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 m...
Objective: Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which pati...
Sodium channel Na(v)1.7 is preferentially expressed in dorsal root ganglion (DRG) and sympathetic ga...
Dominant mutations in voltage-gated sodium channelNa(V)1.7 cause inherited erythromelalgia, a debili...
Thesis (Master's)--University of Washington, 2020Voltage-gated sodium channels (Navs) are responsibl...
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function varia...
The Nav1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-functi...
Dominant gain-of-function mutations that hyperpolarize activation of the Na(v)1.7 sodium channel hav...
Contains fulltext : 88055.pdf (publisher's version ) (Closed access)The Na(v)1.7 s...
Item does not contain fulltextGain-of-function missense mutations of voltage-gated sodium channel Na...
We identified and clinically investigated two patients with primary erythromelalgia mutations (PEM),...
Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain...
The Na(v)1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-func...
Background: Sodium channel Na(V)1.7 is preferentially expressed within dorsal root ganglia (DRG), tr...
Abstract Background Primary erythromelalgia is an autosomal dominant pain disorder characterized by ...
Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 m...
Objective: Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which pati...
Sodium channel Na(v)1.7 is preferentially expressed in dorsal root ganglion (DRG) and sympathetic ga...
Dominant mutations in voltage-gated sodium channelNa(V)1.7 cause inherited erythromelalgia, a debili...
Thesis (Master's)--University of Washington, 2020Voltage-gated sodium channels (Navs) are responsibl...
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function varia...
The Nav1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-functi...
Dominant gain-of-function mutations that hyperpolarize activation of the Na(v)1.7 sodium channel hav...