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- W1601641315 endingPage "110" @default.
- W1601641315 startingPage "85" @default.
- W1601641315 abstract "SCN9A, the gene which encodes voltage‐gated sodium channel Nav1.7, is located on human chromosome 2 within a cluster of other members of this gene family. Nav1.7 is present at high levels in most peripheral nociceptive neurons in dorsal root ganglion (DRG) and in sympathetic neurons. In addition to its focal tissue‐specific expression, Nav1.7 is distinguished by its ability to amplify small depolarizations, thus acting as a threshold channel and modulating excitability. Dominantly inherited gain‐of‐function mutations in SCN9A have been linked to two familial painful disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). One set of mutations leads to severe episodes of pain in the feet and hands in patients with IEM, and a different set of mutations causes pain in a perirectal, periocular, and mandibular distribution in patients with PEPD. These mutations allow mutant channels to activate in response to weaker stimuli, or to remain open longer in response to stimulation. The introduction of mutant channels into DRG neurons alters electrogenesis and renders these primary sensory neurons hyperexcitable. Mutant Nav1.7 channels lower the threshold for single action potentials and increase the number of action potentials that neurons fire in response to suprathreshold stiumli. In contrast, recessively inherited loss‐of‐function mutations in SCN9A, which cause a loss of function of Nav1.7 in patients, lead to indifference to pain with sparing of motor and cognitive abilities. The central role of Nav1.7 in these disorders, and the apparently limited consequences of loss of this channel in humans make it an attractive target for treatment of pain." @default.
- W1601641315 created "2016-06-24" @default.
- W1601641315 creator A5002957653 @default.
- W1601641315 creator A5078449592 @default.
- W1601641315 creator A5091583877 @default.
- W1601641315 date "2008-01-01" @default.
- W1601641315 modified "2023-10-14" @default.
- W1601641315 title "Chapter 4 Genetics and Molecular Pathophysiology of Nav1.7‐Related Pain Syndromes" @default.
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