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Article

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

Brain : a journal of neurology - 1 Jun 2010

Choi Jin-Sung, Cheng Xiaoyang, Foster Edmund, Leffler Andreas, Tyrrell Lynda, Te Morsche Rene H M, Eastman Emmanuella M, Jansen Henry J, Huehne Kathrin, Nau Carla, Dib-Hajj Sulayman D, Drenth Joost P H, Waxman Stephen G

Abstract excerpt

The Na(v)1.7 sodium channel is preferentially expressed in nocioceptive dorsal root ganglion and sympathetic ganglion neurons. Gain-of-function mutations in Na(v)1.7 produce the nocioceptor hyperexcitability underlying inherited erythromelalgia, characterized in most kindreds by early-age onset of severe pain. Here we describe a mutation (Na(v)1.7-G616R) in a pedigree with adult-onset of pain in some family...

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PMID: 20478850
DOI: 10.1093/brain/awq114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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