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Volumn 4, Issue , 2008, Pages

Compound heterozygosity in sodium channel Nav 1.7 in a family with hereditary erythermalgia

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.7; VOLTAGE GATED SODIUM CHANNEL; SCN9A PROTEIN, HUMAN; SODIUM CHANNEL;

EID: 45949089884     PISSN: 17448069     EISSN: None     Source Type: Journal    
DOI: 10.1186/1744-8069-4-21     Document Type: Article
Times cited : (13)

References (28)
  • 2
    • 0023352881 scopus 로고
    • Erythromelalgia - Not so benign
    • 3592957
    • Kirby RL Erythromelalgia - not so benign Arch Phys Med Rehabil 1987, 68:389. 3592957
    • (1987) Arch Phys Med Rehabil , vol.68 , pp. 389
    • Kirby, R.L.1
  • 4
    • 20544476041 scopus 로고    scopus 로고
    • SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
    • 10.1111/j.0022-202X.2005.23737.x 15955112
    • Drenth JP te Morsche RH Guillet G Taieb A Kirby RL Jansen JB SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels J Invest Dermatol 2005, 124:1333-1338. 10.1111/j.0022-202X.2005.23737.x 15955112
    • (2005) J Invest Dermatol , vol.124 , pp. 1333-1338
    • Drenth, J.P.1    te Morsche, R.H.2    Guillet, G.3    Taieb, A.4    Kirby, R.L.5    Jansen, J.B.6
  • 6
    • 12144288410 scopus 로고    scopus 로고
    • Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
    • 1735695 14985375 10.1136/jmg.2003.012153
    • Yang Y Wang Y Li S Xu Z Li H Ma L Fan J Bu D Liu B Fan Z Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia J Med Genet 2004, 41:171-174. 1735695 14985375 10.1136/ jmg.2003.012153
    • (2004) J Med Genet , vol.41 , pp. 171-174
    • Yang, Y.1    Wang, Y.2    Li, S.3    Xu, Z.4    Li, H.5    Ma, L.6    Fan, J.7    Bu, D.8    Liu, B.9    Fan, Z.10
  • 7
    • 33846837216 scopus 로고    scopus 로고
    • Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7
    • 1781932 17239250 10.1186/1744-8069-3-3
    • Han C Lampert A Rush AM Dib-Hajj SD Wang X Yang Y Waxman SG Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7 Mol Pain 2007, 3:3. 1781932 17239250 10.1186/1744-8069-3-3
    • (2007) Mol Pain , vol.3 , pp. 3
    • Han, C.1    Lampert, A.2    Rush, A.M.3    Dib-Hajj, S.D.4    Wang, X.5    Yang, Y.6    Waxman, S.G.7
  • 10
    • 34247874778 scopus 로고    scopus 로고
    • Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
    • 10.1111/j.1399-0004.2007.00790.x 17470132
    • Goldberg YP MacFarlane J MacDonald ML Thompson J Dube MP Mattice M Fraser R Young C Hossain S Pape T Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations Clin Genet 2007, 71:311-319. 10.1111/ j.1399-0004.2007.00790.x 17470132
    • (2007) Clin Genet , vol.71 , pp. 311-319
    • Goldberg, Y.P.1    MacFarlane, J.2    MacDonald, M.L.3    Thompson, J.4    Dube, M.P.5    Mattice, M.6    Fraser, R.7    Young, C.8    Hossain, S.9    Pape, T.10
  • 11
    • 34548426549 scopus 로고    scopus 로고
    • Nav1.7, its mutations, and the syndromes that they cause
    • 10.1212/01.wnl.0000268068.02343.37 17679668
    • Waxman SG Nav1.7, its mutations, and the syndromes that they cause Neurology 2007, 69:505-507. 10.1212/01.wnl.0000268068.02343.37 17679668
    • (2007) Neurology , vol.69 , pp. 505-507
    • Waxman, S.G.1
  • 12
    • 36849036949 scopus 로고    scopus 로고
    • Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders
    • 2096434 18060017 10.1172/JCI33297
    • Drenth JP Waxman SG Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders J Clin Invest 2007, 117:3603-3609. 2096434 18060017 10.1172/JCI33297
    • (2007) J Clin Invest , vol.117 , pp. 3603-3609
    • Drenth, J.P.1    Waxman, S.G.2
  • 13
    • 33750976383 scopus 로고    scopus 로고
    • Inherited erythermalgia: Limb pain from an S4 charge-neutral Na channelopathy
    • 10.1212/01.wnl.0000231514.33603.1e 16988069
    • Choi JS Dib-Hajj SD Waxman SG Inherited erythermalgia: Limb pain from an S4 charge-neutral Na channelopathy Neurology 2006, 67:1563-1567. 10.1212/ 01.wnl.0000231514.33603.1e 16988069
    • (2006) Neurology , vol.67 , pp. 1563-1567
    • Choi, J.S.1    Dib-Hajj, S.D.2    Waxman, S.G.3
  • 14
    • 0019918366 scopus 로고
    • Familial erythromelalgia
    • 10.1001/archderm.118.11.953 7138057
    • Cohen IJ Samorodin CS Familial erythromelalgia Arch Dermatol 1982, 118:953-954. 10.1001/archderm.118.11.953 7138057
    • (1982) Arch Dermatol , vol.118 , pp. 953-954
    • Cohen, I.J.1    Samorodin, C.S.2
  • 15
    • 4644268452 scopus 로고    scopus 로고
    • Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy
    • 10.1523/JNEUROSCI.2695-04.2004 15385606
    • Cummins TR Dib-Hajj SD Waxman SG Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy J Neurosci 2004, 24:8232-8236. 10.1523/JNEUROSCI.2695-04.2004 15385606
    • (2004) J Neurosci , vol.24 , pp. 8232-8236
    • Cummins, T.R.1    Dib-Hajj, S.D.2    Waxman, S.G.3
  • 16
    • 23444443202 scopus 로고    scopus 로고
    • Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
    • 10.1093/brain/awh514 15958509
    • Dib-Hajj SD Rush AM Cummins TR Hisama FM Novella S Tyrrell L Marshall L Waxman SG Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons Brain 2005, 128:1847-1854. 10.1093/brain/awh514 15958509
    • (2005) Brain , vol.128 , pp. 1847-1854
    • Dib-Hajj, S.D.1    Rush, A.M.2    Cummins, T.R.3    Hisama, F.M.4    Novella, S.5    Tyrrell, L.6    Marshall, L.7    Waxman, S.G.8
  • 17
    • 32144445796 scopus 로고    scopus 로고
    • From gene to disease; primary erythermalgia - A neuropathic disease as a consequence of mutations in a sodium pump gene
    • 16471234
    • Drenth JP te Morsche RH Michiels JJ [From gene to disease; primary erythermalgia - a neuropathic disease as a consequence of mutations in a sodium pump gene] Ned Tijdschr Geneeskd 2006, 150:194-196. 16471234
    • (2006) Ned Tijdschr Geneeskd , vol.150 , pp. 194-196
    • Drenth, J.P.1    te Morsche, R.H.2    Michiels, J.J.3
  • 18
    • 33845271929 scopus 로고    scopus 로고
    • Na(V)1.7 mutant A863P in erythromelalgia: Effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons
    • 10.1523/JNEUROSCI.3424-06.2006 17135418
    • Harty TP Dib-Hajj SD Tyrrell L Blackman R Hisama FM Rose JB Waxman SG Na(V)1.7 mutant A863P in erythromelalgia: Effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons J Neurosci 2006, 26:12566-12575. 10.1523/ JNEUROSCI.3424-06.2006 17135418
    • (2006) J Neurosci , vol.26 , pp. 12566-12575
    • Harty, T.P.1    Dib-Hajj, S.D.2    Tyrrell, L.3    Blackman, R.4    Hisama, F.M.5    Rose, J.B.6    Waxman, S.G.7
  • 19
    • 33846021646 scopus 로고    scopus 로고
    • Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating
    • 10.1074/jbc.M607637200 17008310
    • Lampert A Dib-Hajj SD Tyrrell L Waxman SG Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating J Biol Chem 2006, 281:36029-36035. 10.1074/jbc.M607637200 17008310
    • (2006) J Biol Chem , vol.281 , pp. 36029-36035
    • Lampert, A.1    Dib-Hajj, S.D.2    Tyrrell, L.3    Waxman, S.G.4
  • 20
    • 33847666143 scopus 로고    scopus 로고
    • Characterization of a familial case with primary erythromelalgia from Taiwan
    • 10.1007/s00415-006-0328-3 17294067
    • Lee MJ Yu HS Hsieh ST Stephenson DA Lu CJ Yang CC Characterization of a familial case with primary erythromelalgia from Taiwan J Neurol 2007, 254:210-214. 10.1007/s00415-006-0328-3 17294067
    • (2007) J Neurol , vol.254 , pp. 210-214
    • Lee, M.J.1    Yu, H.S.2    Hsieh, S.T.3    Stephenson, D.A.4    Lu, C.J.5    Yang, C.C.6
  • 21
    • 26444466085 scopus 로고    scopus 로고
    • Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7
    • 10.1001/archneur.62.10.1587 16216943
    • Michiels JJ te Morsche RH Jansen JB Drenth JP Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7 Arch Neurol 2005, 62:1587-1590. 10.1001/archneur.62.10.1587 16216943
    • (2005) Arch Neurol , vol.62 , pp. 1587-1590
    • Michiels, J.J.1    te Morsche, R.H.2    Jansen, J.B.3    Drenth, J.P.4
  • 23
    • 28244468409 scopus 로고    scopus 로고
    • Erythermalgia: Molecular basis for an inherited pain syndrome
    • 10.1016/j.molmed.2005.10.004 16278094
    • Waxman SG Dib-Hajj S Erythermalgia: Molecular basis for an inherited pain syndrome Trends Mol Med 2005, 11:555-562. 10.1016/ j.molmed.2005.10.004 16278094
    • (2005) Trends Mol Med , vol.11 , pp. 555-562
    • Waxman, S.G.1    Dib-Hajj, S.2
  • 24
    • 33947389328 scopus 로고    scopus 로고
    • Mutation hotspots of SCN9A in primary erythermalgia
    • 10.1111/j.1365-2133.2006.07727.x 17263810
    • Zhang LL Lin ZM Ma ZH Xu Z Yang YL Yang Y Mutation hotspots of SCN9A in primary erythermalgia Br J Dermatol 2007, 156:767-769. 10.1111/ j.1365-2133.2006.07727.x 17263810
    • (2007) Br J Dermatol , vol.156 , pp. 767-769
    • Zhang, L.L.1    Lin, Z.M.2    Ma, Z.H.3    Xu, Z.4    Yang, Y.L.5    Yang, Y.6
  • 26
    • 33750440145 scopus 로고    scopus 로고
    • What's in a name - Familial rectal pain syndrome becomes paroxysmal extreme pain disorder
    • 10.1136/jnnp.2006.089664 17043302
    • Fertleman CR Ferrie CD What's in a name - familial rectal pain syndrome becomes paroxysmal extreme pain disorder J Neurol Neurosurg Psychiatry 2006, 77:1294-1295. 10.1136/jnnp.2006.089664 17043302
    • (2006) J Neurol Neurosurg Psychiatry , vol.77 , pp. 1294-1295
    • Fertleman, C.R.1    Ferrie, C.D.2
  • 28
    • 33751119879 scopus 로고    scopus 로고
    • Erythromelalgia: A case report and literature review
    • 10.1111/j.1526-4637.2006.00240.x 17112366
    • Buttaci CJ Erythromelalgia: A case report and literature review Pain Med 2006, 7:534-538. 10.1111/j.1526-4637.2006.00240.x 17112366
    • (2006) Pain Med , vol.7 , pp. 534-538
    • Buttaci, C.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.