Key result
Mutations in the voltage-gated sodium-channel gene SCN9A (Nav1.7) cause three distinct human pain disorders: primary erythermalgia, paroxysmal extreme pain disorder, and insensitivity to pain.
Population
Humans with genetic pain disorders and animal models
Design
Review
Authors
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Supports SCN9A as monogenic pain locus; leaves open Nav1.7 inhibitor efficacy in common pain disorders.
Mutations in the SCN9A gene encoding the Nav1.7 sodium channel are responsible for a spectrum of genetic pain disorders, highlighting Nav1.7 as a critical target for pain sensation and potential therapeutic intervention.
Drenth et al. (2007) conducted a review in Genetic pain disorders (primary erythermalgia, paroxysmal extreme pain disorder, channelopathy-associated insensitivity to pain). SCN9A mutations (Nav1.7 dysfunction) was evaluated. Mutations in the voltage-gated sodium-channel gene SCN9A (Nav1.7) cause three distinct human pain disorders: primary erythermalgia, paroxysmal extreme pain disorder, and insensitivity to pain.
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