The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

@article{Han2015TheDI,
  title={The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy},
  author={Chongyang Han and Yang Yang and Bianca de Greef and Janneke Hoeijmakers and Monique Gerrits and Camillus Verhamme and Jian Hui Qu and Giuseppe Lauria and Ingemar S. J. Merkies and Catharina G. Faber and Sulayman D. Dib-Hajj and Stephen G. Waxman},
  journal={NeuroMolecular Medicine},
  year={2015},
  volume={17},
  pages={158-169}
}
Painful small fiber neuropathy is a challenging medical condition with no effective treatment. Non-genetic causes can be identified in one half of the subjects. Gain-of-function variants of sodium channels Nav1.7 and Nav1.8 have recently been associated with painful small fiber neuropathy. More recently, mutations of sodium channel Nav1.9 have been linked to human pain disorders, with two gain-of-function mutations found in patients with painful small fiber neuropathy. Here we report a novel… CONTINUE READING
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