TY - JOUR
T1 - Van gen naar ziekte; de neuropathische ziekte 'primaire erythermalgie' als gevolg van mutaties in een natriumpompgen
AU - Drenth, J. P. H.
AU - te Morsche, R. H. M.
AU - Michiels, J. J.
PY - 2006/1/28
Y1 - 2006/1/28
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=32144445796&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/16471234
M3 - Review article
C2 - 16471234
SN - 0028-2162
VL - 150
SP - 194
EP - 196
JO - Nederlands Tijdschrift voor Geneeskunde
JF - Nederlands Tijdschrift voor Geneeskunde
IS - 4
ER -