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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...
Autores principales: | Adi, Talia, Estacion, Mark, Schulman, Betsy R, Vernino, Steven, Dib-Hajj, Sulayman D, Waxman, Stephen G |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2018
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Materias: | |
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 |
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