Article
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
BMC systems biology - 24 Feb 2017
Kapetis Dimos, Sassone Jenny, Yang Yang, Galbardi Barbara, Xenakis Markos N, Westra Ronald L, Szklarczyk Radek, Lindsey Patrick, Faber Catharina G, Gerrits Monique, Merkies Ingemar S J, Dib-Hajj Sulayman D, Mantegazza Massimo, Waxman Stephen G, Lauria Giuseppe
Abstract excerpt
BACKGROUND: Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalgia, paroxysmal extreme pain disorder and small fibre neuropathy. These mutations change the biophysical properties of NaV1.7 channels leading to hyperexcitability of dorsal root ganglion nociceptors and...
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