Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, OMIM 167400), is an inherited disease causing intense burning rectal, ocular, and submandibular pain and flushing. Fertleman et al. (this issue of Neuron) show that mutations in SCN9A, the gene encoding the sodium channel Na(V)1.7 channels, are responsible for this syndrome. Together with earlier work implicating a distinct class of functional mutations in SCN9A in a distinct inherited pain syndrome, these results point to Na(V)1.7 channels as key players in signaling nociceptive information and as a potential target for drug therapy of chronic pain.
机构:
Harvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USAHarvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USA
Keating, MT
;
Sanguinetti, MC
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机构:Harvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USA
机构:
Harvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USAHarvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USA
Keating, MT
;
Sanguinetti, MC
论文数: 0引用数: 0
h-index: 0
机构:Harvard Univ, Sch Med,Childrens Hosp, Howard Hughes Med Inst, Dept Cell Biol, Boston, MA 02115 USA