Functional impact of the TRPA1 H560D variant on neuropathic pain.
Nicole Michelle Schottmann, Mirjam Jeanette Eberhardt, Sebastian Wehmeyer et al.
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From the abstract
Small fiber neuropathy (SFN) is characterized by acral burning pain and may be associated with genetic variants of the transient receptor potential ankyrin 1 (TRPA1) channel. We studied a 43-year-old male patient with SFN with severe acral and abdominal pain carrying the TRPA1 variant NM_007332.3:c.1678C>G (His560Asp).