Na(v) 1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation

Gain-of-function mutations in Scn9a, which encodes the peripheral sensory neuron-enriched voltage-gated sodium channel Na(v)1.7, cause paroxysmal extreme pain disorder (PEPD), inherited erythromelalgia (IEM), and small fiber neuropathy (SFN). Conversely, loss-of-function mutations in the gene are li...

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Detalles Bibliográficos
Autores principales: Wimalasena, Nivanthika K., Taub, Daniel G., Shim, Jaehoon, Hakim, Sara, Kawaguchi, Riki, Chen, Lubin, El-Rifai, Mahmoud, Geschwind, Daniel H., Dib-Hajj, Sulayman D., Waxman, Stephen G., Woolf, Clifford J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10171359/
https://www.ncbi.nlm.nih.gov/pubmed/37003485
http://dx.doi.org/10.1016/j.expneurol.2023.114393

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