ArticleMolecular pain2008
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.
Article in Molecular pain, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.Acta dermato-venereologica · 2025Article
- Site-directed A → I RNA editing as a therapeutic tool: moving beyond genetic mutations.RNA (New York, N.Y.) · 2023Article
- Review
- Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.British journal of pharmacology · 2014Article
- Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.Journal of neurology, neurosurgery, and psychiatry · 2013Article
- Article
- Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.Current neurology and neuroscience reports · 2012Review
- Genetic variability of pain perception and treatment--clinical pharmacological implications.European journal of clinical pharmacology · 2011Review
- Pharmacogenetics of new analgesics.British journal of pharmacology · 2011Review
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic etiology. Molecular analysis of the proband from the family detected two different missense mutations in Nav1.7. In the present study we have performed a long-term follow-up clinical study of disease progression in three affected family members. A more extensive molecular study has also been completed, analyzing the segregation of the two missense variants in the family. The two variants (P610T, L858F) segregate independently with respect to clinical presentation. Detailed genotype/phenotype correlation suggests that one of the two variants (L858F) is causal for erythermalgia. The second variant (P610T) may modify the phenotype in the proband. This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.