(Q48001757)

7 February 2018

title

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation (English)

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7 February 2018

1

Chongyang Han

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7 February 2018

Sulayman D Dib-Hajj

2

object named as

Sulayman D Dib-Hajj

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7 February 2018

Stephen G Waxman

9

object named as

Stephen G Waxman

1 reference

7 February 2018

Lynda Tyrrell

6

object named as

Lynda Tyrrell

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7 February 2018

author name string

Zhimiao Lin

3

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7 February 2018

Yan Li

4

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7 February 2018

Emmanuella M Eastman

5

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7 February 2018

Xianwei Cao

7

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7 February 2018

Yong Yang

8

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7 February 2018

language of work or name

English

0 references

publication date

15 April 2009

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7 February 2018

published in

Brain

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7 February 2018

volume

132

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7 February 2018

issue

Pt 7

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7 February 2018

page(s)

1711-1722

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7 February 2018

Spinal sensory neurons express multiple sodium channel alpha-subunit mRNAs

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Biophysical properties of human Na v1.7 splice variants and their regulation by protein kinase A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

From genes to pain: Na v 1.7 and human pain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Role of the amino and carboxy termini in isoform-specific sodium channel variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Characterization of a familial case with primary erythromelalgia from Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A catalog of SCN1A variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Pathogenesis of polyglutamine disorders: aggregation revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Annexin II light chain regulates sensory neuron-specific sodium channel expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Neurobiology: a channel sets the gain on pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

Glutamine repeats and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP078

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP078

1 reference

7 February 2018

1 reference

7 February 2018