Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.

作者: J. D. Ramirez , A. M. Habib , J. J. Cox , A. C. Themistocleous , S. B. McMahon

DOI: 10.1212/WNL.0000000000000913

关键词: NociceptionMedicineSensory systemNeuroscienceSCN9A GeneNoxious stimulusAnosmiaNull allelePerceptLoss functionAnesthesia

摘要: The term nociception was originally defined by Sherrington1 as the neural process which high-threshold stimuli (which cause tissue injury) are detected. This is distinct from pain, quality of sensory percept (i.e., unpleasant), not always evoked a noxious stimulus, and can also be experienced in absence stimulus. In man, recessive loss function mutations SCN9A gene, encoding α subunit Nav1.7, results anosmia congenital inability to experience pain,2–4 but there have been few reports detailed testing these patients.

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