Gain-of-function Na(v)1.8 mutations in painful neuropathy

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 specifica...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2012
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511073/
https://ncbi.nlm.nih.gov/pubmed/23115331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1216080109
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