Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation

被引：7

作者：

Bartholomew, F. ^{[1
]}

Lazar, J. ^{[1
]}

Marqueling, A. ^{[1
]}

Lee-Messer, C.

Jaradeh, S. ^{[2
]}

Teng, J. M. C. ^{[1
]}

机构：

[1] Stanford Univ, Sch Med, Dept Dermatol, Palo Alto, CA 94304 USA

[2] Stanford Univ, Sch Med, Dept Neurol, Palo Alto, CA 94304 USA

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2014年 / 171卷 / 05期

关键词：

OF-FUNCTION MUTATIONS; NEURONS; NEUROPATHY; INABILITY;

D O I：

10.1111/bjd.13096

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1268 / 1270

页数：3

共 10 条

[1] An SCN9A channelopathy causes congenital inability to experience pain [J].

Cox, James J. ;

Reimann, Frank ;

Nicholas, Adeline K. ;

Thornton, Gemma ;

Roberts, Emma ;

Springell, Kelly ;

Karbani, Gulshan ;

Jafri, Hussain ;

Mannan, Jovaria ;

Raashid, Yasmin ;

Al-Gazali, Lihadh ;

Hamamy, Henan ;

Valente, Enza Maria ;

Gorman, Shaun ;

Williams, Richard ;

McHale, Duncan P. ;

Wood, John N. ;

Gribble, Fiona M. ;

Woods, C. Geoffrey .

NATURE, 2006, 444 (7121) :894-898

[2] Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable [J].

Dib-Hajj, Sulayman D. ;

Estacion, Mark ;

Jarecki, Brian W. ;

Tyrrell, Lynda ;

Fischer, Tanya Z. ;

Lawden, Mark ;

Cummins, Theodore R. ;

Waxman, Stephen G. .

MOLECULAR PAIN, 2008, 4

[3] The NaV1.7 sodium channel: from molecule to man [J].

Dib-Hajj, Sulayman D. ;

Yang, Yang ;

Black, Joel A. ;

Waxman, Stephen G. .

NATURE REVIEWS NEUROSCIENCE, 2013, 14 (01) :49-62

[4] Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations [J].

Goldberg, Y. P. ;

MacFarlane, J. ;

MacDonald, M. L. ;

Thompson, J. ;

Dube, M-P ;

Mattice, M. ;

Fraser, R. ;

Young, C. ;

Hossain, S. ;

Pape, T. ;

Payne, B. ;

Radomski, C. ;

Donaldson, G. ;

Ives, E. ;

Cox, J. ;

Younghusband, H. B. ;

Green, R. ;

Duff, A. ;

Boltshauser, E. ;

Grinspan, G. A. ;

Dimon, J. H. ;

Sibley, B. G. ;

Andria, G. ;

Toscano, E. ;

Kerdraon, J. ;

Bowsher, D. ;

Pimstone, S. N. ;

Samuels, M. E. ;

Sherrington, R. ;

Hayden, M. R. .

CLINICAL GENETICS, 2007, 71 (04) :311-319

[5] Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy [J].

Han, Chongyang ;

Hoeijmakers, Janneke G. J. ;

Liu, Shujun ;

Gerrits, Monique M. ;

te Morsche, Rene H. M. ;

Lauria, Giuseppe ;

Dib-Hajj, Sulayman D. ;

Drenth, Joost P. H. ;

Faber, Catharina G. ;

Merkies, Ingemar S. J. ;

Waxman, Stephen G. .

BRAIN, 2012, 135 :2613-2628

[6] Autonomic dysfunction in SCN9A-associated primary erythromelalgia [J].

Kim, Min-Kyeong ;

Yuk, Ji-Won ;

Kim, Hyang-Sook ;

Park, Ki-Jong ;

Kim, Dae-Seong .

CLINICAL AUTONOMIC RESEARCH, 2013, 23 (02) :105-107

[7] A single sodium channel mutation produces hyperor hypoexcitability in different types of neurons [J].

Rush, Anthony M. ;

Dib-Hajj, Sulayman D. ;

Liu, Shujun ;

Cummins, Theodore R. ;

Black, Joel A. ;

Waxman, Stephen G. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (21) :8245-8250

[8] Congenital idiopathic inability to perceive pain: A new syndrome of insensitivity to pain and itch with preserved small fibers [J].

Sandroni, P ;

Martin, DP ;

Bruce, BK ;

Rome, JD .

PAIN, 2006, 122 (1-2) :210-215

[9] Loss-of-function mutations in sodium channel Nav1.7 cause anosmia [J].

Weiss, Jan ;

Pyrski, Martina ;

Jacobi, Eric ;

Bufe, Bernd ;

Willnecker, Vivienne ;

Schick, Bernhard ;

Zizzari, Philippe ;

Gossage, Samuel J. ;

Greer, Charles A. ;

Leinders-Zufall, Trese ;

Woods, C. Geoffrey ;

Wood, John N. ;

Zufall, Frank .

NATURE, 2011, 472 (7342) :186-190

[10] Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation [J].

Yuan, Junhui ;

Matsuura, Eiji ;

Higuchi, Yujiro ;

Hashiguchi, Akihiro ;

Nakamura, Tomonori ;

Nozuma, Satoshi ;

Sakiyama, Yusuke ;

Yoshimura, Akiko ;

Izumo, Shuji ;

Takashima, Hiroshi .

NEUROLOGY, 2013, 80 (18) :1641-1649

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