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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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Medknow Publications
2026-04-01
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| coleção: | Indian Journal of Pain |
| Assuntos: | |
| Acesso em linha: | https://journals.lww.com/10.4103/ijpn.ijpn_140_24 |
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