E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

Gain-of-function mutations in voltage-gated sodium channels (NaV1.7, NaV1.8, and NaV1.9) are known causes of inherited pain disorders. Identification and functional assessment of new NaV1.7 mutations could help elucidate the phenotypic spectrum of NaV1.7 channelopathies. We identified a novel NaV1.7...

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Bibliographic Details
Main Authors: Kiichi Takahashi, Takayoshi Ohba, Yosuke Okamoto, Atsuko Noguchi, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Akio Koizumi, Kyoichi Ono, Tsutomu Takahashi
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Heliyon
Subjects:
NaV1.7
Paroxysmal pain
Patch-clamp techniques
SCN9A mutation
Voltage-gated sodium channel
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844021014997

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