Article
Gain-of-function Nav1.8 mutations in painful neuropathy.
Proceedings of the National Academy of Sciences of the United States of America - 20 Nov 2012
Faber Catharina G, Lauria Giuseppe, Merkies Ingemar S J, Cheng Xiaoyang, Han Chongyang, Ahn Hye-Sook, Persson Anna-Karin, Hoeijmakers Janneke G J, Gerrits Monique M, Pierro Tiziana, Lombardi Raffaella, Kapetis Dimos, Dib-Hajj Sulayman D, Waxman Stephen G
Abstract excerpt
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function variants of sodium channel Na(v)1.7 have recently been found in ∼30% of cases of idiopathic painful small-fiber neuropathy. Here, we describe mutations in Na(v)1.8, another sodium channel that is specifically expressed in dorsal root ganglion (DRG) neurons and peripheral nerve axons, in patients with painful neuropathy....
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