Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

@inproceedings{Leipold2015ColdaggravatedPI,
  title={Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant},
  author={Enrico Leipold and Andrea Kwan Hanson-Kahn and Miya Frick and Ping Gong and J A Bernstein and Martin Voigt and Istvan Katona and R Oliver Goral and Janine Altmueller and Peter N{\"u}rnberg and Joachim Weis and Christian Andreas H{\"u}bner and Stefan H. Heinemann and Ingo Kurth},
  booktitle={Nature communications},
  year={2015}
}
Gain-of-function mutations in the human SCN11A-encoded voltage-gated Na(+) channel NaV1.9 cause severe pain disorders ranging from neuropathic pain to congenital pain insensitivity. However, the entire spectrum of the NaV1.9 diseases has yet to be defined. Applying whole-exome sequencing we here identify a missense change (p.V1184A) in NaV1.9, which leads to cold-aggravated peripheral pain in humans. Electrophysiological analysis reveals that p.V1184A shifts the voltage dependence of channel… CONTINUE READING
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