SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
By C. Fertleman, M. Baker, K. Parker, Sarah Moffatt, F. Elmslie, B. Abrahamsen, J. Ostman, N. Klugbauer, J. Wood, R. Gardiner and 1 more. Neuron, 2006
742 citations recorded by the source corpus.
Subfields: Molecular Biology, Pharmacology, Physiology
View Paper: https://www.semanticscholar.org/paper/af732a0b6cea16d7e7d2861d6dee77a26213407c
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Citations in the corpus
- Handbook of ion channels (2015, background): “Paroxysmal extreme pain disorder (PEPD) is a distinct syndrome associated with bouts of pain that is spontaneous or triggered by innocuous stimuli (53,54).”
- Cellular and Molecular Mechanisms of Pain (2009, neutral): “7 leads to hyperexcitability of the channel and are associated with two distinct pain disorders in humans, erythromelalgia and paroxysmal extreme pain disorder, both of which cause intense burning sensations (Estacion et al., 2008; Fertleman et al., 2006; Yang et al., 2004).”