Van gen naar ziekte; de neuropathische ziekte 'primaire erythermalgie' als gevolg van mutaties in een natriumpompgen

J. P. H. Drenth, R. H. M. te Morsche, J. J. Michiels

Research output: Contribution to journalReview articleProfessional

3 Citations (Scopus)

Abstract

Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (Nav1.7). Na v1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.
Original languageDutch
Pages (from-to)194-196
JournalNederlands Tijdschrift voor Geneeskunde
Volume150
Issue number4
Publication statusPublished - 28 Jan 2006
Externally publishedYes

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