Heterogeneous Missense SCN9A Mutation in Primary Erythromelalgia
The primary cause of primary erythromelalgia, an autosomal dominant genetic disorder characterized by hyperexcitability of sodium-gated voltage channels, is known to be a gain-of-function mutation in the SCN9A, SCN10A, and SCN11A genes. We describe the case of a 6-year-old kid who experienced the cl...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer Medknow Publications
2026-04-01
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| Serie: | Indian Journal of Pain |
| Soggetti: | |
| Accesso online: | https://journals.lww.com/10.4103/ijpn.ijpn_140_24 |
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