| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10759682 | Biochemical and Biophysical Research Communications | 2013 | 6 Pages |
Abstract
⺠A new mutation (Nav1.7-V1316A) was found in a patient diagnosed with erythromelalgia. ⺠The mutation caused hyperpolarized shifts of activation, slow-inactivation and increased ramp response in patch-clamp. ⺠These hyperexcitability changes are similar to previously characterized erythromelalgia mutations. ⺠These changes likely contribute to the painful symptoms.
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Authors
Mark Estacion, Yang Yang, Sulayman D. Dib-Hajj, Lynda Tyrrell, Zhimiao Lin, Yong Yang, Stephen G. Waxman,