E44Q mutation in Na(V)1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

Gain-of-function mutations in voltage-gated sodium channels (Na(V)1.7, Na(V)1.8, and Na(V)1.9) are known causes of inherited pain disorders. Identification and functional assessment of new Na(V)1.7 mutations could help elucidate the phenotypic spectrum of Na(V)1.7 channelopathies. We identified a no...

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Detalles Bibliográficos
Autores principales: Takahashi, Kiichi, Ohba, Takayoshi, Okamoto, Yosuke, Noguchi, Atsuko, Okuda, Hiroko, Kobayashi, Hatasu, Harada, Kouji H., Koizumi, Akio, Ono, Kyoichi, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243507/
https://www.ncbi.nlm.nih.gov/pubmed/34222704
http://dx.doi.org/10.1016/j.heliyon.2021.e07396

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