Article
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia.
Science translational medicine - 20 Apr 2016
Cao Lishuang, McDonnell Aoibhinn, Nitzsche Anja, Alexandrou Aristos, Saintot Pierre-Philippe, Loucif Alexandre J C, Brown Adam R, Young Gareth, Mis Malgorzata, Randall Andrew, Waxman Stephen G, Stanley Philip, Kirby Simon, Tarabar Sanela, Gutteridge Alex, Butt Richard, McKernan Ruth M, Whiting Paul, Ali Zahid, Bilsland James, Stevens Edward B
Abstract excerpt
In common with other chronic pain conditions, there is an unmet clinical need in the treatment of inherited erythromelalgia (IEM). TheSCN9Agene encoding the sodium channel Nav1.7 expressed in the peripheral nervous system plays a critical role in IEM. A gain-of-function mutation in this sodium channel leads to aberrant sensory neuronal activity and extreme pain, particularly in response to heat. Five patients...
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