Literature DB >> 23152140

Autonomic dysfunction in SCN9A-associated primary erythromelalgia.

Min-Kyeong Kim1, Ji-Won Yuk, Hyang-Sook Kim, Ki-Jong Park, Dae-Seong Kim.   

Abstract

Primary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test revealed a mild sudomotor dysfunction.

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Year:  2012        PMID： 23152140     DOI： 10.1007/s10286-012-0181-7

Source DB:  PubMed          Journal:  Clin Auton Res        ISSN： 0959-9851            Impact factor:   4.435


  9 in total

1.  Erythromelalgia.

Authors:  E D Telford; H T Simmons
Journal:  Br Med J       Date:  1940-12-07

2.  Nonspecific capillary proliferation and vasculopathy indicate skin hypoxia in erythromelalgia.

Authors:  Ole Magne Kalgaard; Ole Petter Clausen; Ove Johan Mellbye; Torstein Hovig; Knut Kvernebo
Journal:  Arch Dermatol       Date:  2010-11-15

3.  Thermoregulatory sweat testing in patients with erythromelalgia.

Authors:  Mark D P Davis; Joseph Genebriera; Paola Sandroni; Robert D Fealey
Journal:  Arch Dermatol       Date:  2006-12

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

Authors:  S D Dib-Hajj; A M Rush; T R Cummins; F M Hisama; S Novella; L Tyrrell; L Marshall; S G Waxman
Journal:  Brain       Date:  2005-06-15       Impact factor: 13.501

5.  SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

Authors:  Joost P H Drenth; Rene H M te Morsche; Gerard Guillet; Alain Taieb; R Lee Kirby; Jan B M J Jansen
Journal:  J Invest Dermatol       Date:  2005-06       Impact factor: 8.551

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

Authors:  Jin-Sung Choi; Sulayman D Dib-Hajj; Stephen G Waxman
Journal:  Neurology       Date:  2006-09-20       Impact factor: 9.910

7.  Effect of age and gender on sudomotor and cardiovagal function and blood pressure response to tilt in normal subjects.

Authors:  P A Low; J C Denq; T L Opfer-Gehrking; P J Dyck; P C O'Brien; J M Slezak
Journal:  Muscle Nerve       Date:  1997-12       Impact factor: 3.217

Review 8.  From genes to pain: Na v 1.7 and human pain disorders.

Authors:  Sulayman D Dib-Hajj; Theodore R Cummins; Joel A Black; Stephen G Waxman
Journal:  Trends Neurosci       Date:  2007-10-22       Impact factor: 13.837

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

Authors:  Y Yang; Y Wang; S Li; Z Xu; H Li; L Ma; J Fan; D Bu; B Liu; Z Fan; G Wu; J Jin; B Ding; X Zhu; Y Shen
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318
  9 in total
  2 in total

1.  An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature.

Authors:  Samir M Al-Minshawy; Abdel-Azeem M El-Mazary
Journal:  J Med Case Rep       Date:  2014-02-25

Review 2.  Primary erythromelalgia: a review.

Authors:  Zhaoli Tang; Zhao Chen; Beisha Tang; Hong Jiang
Journal:  Orphanet J Rare Dis       Date:  2015-09-30       Impact factor: 4.123
  2 in total

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