From gene to disease; primary erythermalgia - A neuropathic disease as a consequence of mutations in a sodium pump gene;Van gen naar ziekte; de neuropathische ziekte 'primaire erythermalgie' als gevolg van mutaties in een natriumpompgen

Nederlands Tijdschrift voor Geneeskunde

Volumn 150, Issue 4, 2006, Pages 194-196

  Drenth, J P H ^a   Te Morsche, R H M ^a   Michiels, J J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); VOLTAGE GATED SODIUM CHANNEL;

AUTOSOMAL DOMINANT DISORDER; BURNING SENSATION; ERYTHROMELALGIA; GENE; GENE MUTATION; HUMAN; NERVE CELL; NERVE CELL EXCITABILITY; REVIEW; SCN9A GENE; SPINAL GANGLION;

ERYTHROMELALGIA; HUMANS; MUTATION; NERVOUS SYSTEM DISEASES; SODIUM CHANNELS;

EID: 32144445796     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (11)

1. Drenth JPH, Michiels JJ, Joost Th van. Primaire en secundaire erythermalgie. Ned Tijdschr Geneeskd. 1994;138:2231-4.
2. Michiels JJ, Joost Th van, Vuzevski VD. Idiopathic erythermalgia: a congenital disorder. J Am Acad Dermatol. 1989;21(5 Pt 2)11128-30.
3. Legroux-Crespel E, Sassolas B, Guillet G, Kupfer I, Dupre D, Misery L. Traitement de l'erythermalgie familiale par l'association lidocaine-mexiletine. Ann Dermatol Venereol. 2003;130:429-33.
4. Drenth JP, Finley WH, Breedveld GJ, Testers L, Michiels JJ, Guillet G, et al. The primary erythermalgia-susceptibility gene is located on chromosome 21131-32. Am J Hum Genet. 2001;68:1277-82.
5. Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004;41:171-4.
6. Drenth JP, Morsche KH te, 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;124:1333-8.
7. Michiels JJ, Morsche RH te, Jansen JB, Drenth JP. Autosomal dominant erythermalgia associated with a novel mutation in the voltagegated sodium channel alpha subunit Navi.7. Arch Neurol. 2005162:1587-90.
8. Nassar MA, Stirling LC, Forlani G, Baker MD, Matthews EA, Dickenson AH, et al. Nociceptor-specific gene deletion reveals a major role for Navi.7 (PNI) in acute and inflammatory pain. Proc Natl Acad Sci USA. 2004;101:12706-11.
9. Cummins TR, Dib-Hajj SD, Waxman SG. Electrophysiological properties of mutant Navi.7 sodium channels in a painful inherited neuropathy. J Neurosci. 2004;24:8232-6.
10. Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, et al. Gain-of-function mutation in Navi.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005;128(Pt 8):1847-54.
11. Burns TM, Morsche RH te, Jansen JB, Drenth JP. Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia. Br J Dermatol. 2005;153:174-7.