Erythromelalgia
What's New
Last Posted: Mar 16, 2023
- Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Andreas C Themistocleous et al. Brain communications 2023 5(2) fcad037 - Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Zhiping, et al. Scandinavian journal of pain 2018 0 (4) 217-225 - Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.
Janicki Piotr K, et al. Cureus 2019 0 (5) e4587 - A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia.
Vargas-Alarcon Gilberto, et al. BMC musculoskeletal disorders 2012 0 (1) 23 - Erythromelalgia
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 27, 2024
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