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We identified a patient with severe inherited erythromelalgia secondary to an L858F mutation in the voltage-gated sodium channel Na(v)1.7. The patient reported severe ongoing foot pain, which was exquisitely sensitive to limb cooling. We confirmed this heat hypersensitivity using quantitative sensory testing. Additionally, we employed a novel perfusion imaging technique in a simple block design to assess her baseline erythromelalgia pain vs cooling relief. Robust activations of key pain, pain-affect, and reward-related centres were observed. This combined approach allowed us to confirm the presence of a temperature-sensitive channelopathy of peripheral neurons and to investigate the neural correlates of tonic neuropathic pain and relief in a single subject.

Original publication

DOI

10.1016/j.pain.2011.12.012

Type

Journal article

Journal

Pain

Publication Date

05/2012

Volume

153

Pages

1122 - 1127

Keywords

Adult, Brain, Erythromelalgia, Female, Functional Neuroimaging, Humans, NAV1.7 Voltage-Gated Sodium Channel, Neuralgia, Pleasure, Sensory Thresholds, Sodium Channels, Spin Labels