A novel gain-of-function Na(v)1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

Voltage-gated sodium channel Na(v)1.7 is a threshold channel in peripheral dorsal root ganglion (DRG), trigeminal ganglion, and sympathetic ganglion neurons. Gain-of-function mutations in Na(v)1.7 have been shown to increase excitability in DRG neurons and have been linked to rare Mendelian and more...

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Detalles Bibliográficos
Autores principales: Adi, Talia, Estacion, Mark, Schulman, Betsy R, Vernino, Steven, Dib-Hajj, Sulayman D, Waxman, Stephen G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856981/
https://www.ncbi.nlm.nih.gov/pubmed/30392441
http://dx.doi.org/10.1177/1744806918815007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856981/
https://www.ncbi.nlm.nih.gov/pubmed/30392441
http://dx.doi.org/10.1177/1744806918815007

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