SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. (Q36123895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27598514%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing (English)

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22 March 2020

1

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22 March 2020

Jannis E Meents

10

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22 March 2020

Thomas Carr

12

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22 March 2020

Angelika Lampert

20

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22 March 2020

author name string

Dagrun Sagafos

2

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22 March 2020

Anthony M Rush

3

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22 March 2020

Cristian Neacsu

4

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22 March 2020

Esther Eberhardt

5

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22 March 2020

Roland Schmidt

6

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22 March 2020

Lars Kristian Lunden

7

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22 March 2020

Kristin Ørstavik

8

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22 March 2020

Luisa Kaluza

9

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22 March 2020

Zhiping Zhang

11

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22 March 2020

Hugh Salter

13

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22 March 2020

David Malinowsky

14

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22 March 2020

Patrik Wollberg

15

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22 March 2020

Johannes Krupp

16

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22 March 2020

Inge Petter Kleggetveit

17

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22 March 2020

Martin Schmelz

18

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22 March 2020

Ellen Jørum

19

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22 March 2020

Barbara Namer

21

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22 March 2020

language of work or name

English

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publication date

6 September 2016

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22 March 2020

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22 March 2020

volume

11

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22 March 2020

issue

9

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22 March 2020

page(s)

e0161789

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Creative Commons Attribution 4.0 International

22 March 2020

copyright license

start time

6 September 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

C-fiber recovery cycle supernormality depends on ion concentration and ion channel permeability.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Differential axonal conduction patterns of mechano-sensitive and mechano-insensitive nociceptors--a combined experimental and modelling study.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

A gain-of-function voltage-gated sodium channel 1.8 mutation drives intense hyperexcitability of A- and C-fiber neurons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Modeling activity-dependent changes of axonal spike conduction in primary afferent C-nociceptors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Gain-of-function Nav1.8 mutations in painful neuropathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

NaV1.8 channels are expressed in large, as well as small, diameter sensory afferent neurons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Results of computer-assisted sensory evaluation in 41 patients with erythromelalgia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Reference data for quantitative sensory testing (QST): refined stratification for age and a novel method for statistical comparison of group data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Single-cell analysis of sodium channel expression in dorsal root ganglion neurons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Sodium channelopathies and pain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Diversity of expression of the sensory neuron-specific TTX-resistant voltage-gated sodium ion channels SNS and SNS2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Distribution of the tetrodotoxin-resistant sodium channel PN3 in rat sensory neurons in normal and neuropathic conditions.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Responses in human A and C fibres to repeated electrical intradermal stimulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Action potential broadening and frequency-dependent facilitation of calcium signals in pituitary nerve terminals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Differential effects of low dose lidocaine on C-fiber classes in humans.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Membrane properties and electrogenesis in the distal axons of small dorsal root ganglion neurons in vitro.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Conduction velocity is regulated by sodium channel inactivation in unmyelinated axons innervating the rat cranial meninges

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Partial reversal of conduction slowing during repetitive stimulation of single sympathetic efferents in human skin.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Role of Tetrodotoxin-Resistant Na+Current Slow Inactivation in Adaptation of Action Potential Firing in Small-Diameter Dorsal Root Ganglion Neurons

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Pathological C-fibres in patients with a chronic painful condition.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5012686

Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): Standardized protocol and reference values

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0161789

The Cell and Molecular Basis of Mechanical, Cold, and Inflammatory Pain

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0161789

Functional attributes discriminating mechano-insensitive and mechano-responsive C nociceptors in human skin

21 January 2018

1 reference

12 December 2020

Microneurographic assessment of C-fibre function in aged healthy subjects

1 reference

12 December 2020

Repetitive activity slows axonal conduction velocity and concomitantly increases mechanical activation threshold in single axons of the rat cranial dura

1 reference

12 December 2020

Nav1.8 expression is not restricted to nociceptors in mouse peripheral nervous system

1 reference

12 December 2020

High spontaneous activity of C-nociceptors in painful polyneuropathy

1 reference

12 December 2020

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

1 reference

12 December 2020

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia

1 reference

12 December 2020

Variations in onset of action potential broadening: effects on calcium current studied in chick ciliary ganglion neurones

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0161789

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22 March 2020

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22 March 2020

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