Sodium Channelopathies: From Molecular Physiology towards Medical Genetics
- Авторлар: Marakhonov A.1,2, Varenikov G.2, Skoblov M.1,2
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Мекемелер:
- Research Centre for Medical Genetics
- Moscow Institute of Physics and Technology
- Шығарылым: Том 54, № 1 (2018)
- Беттер: 45-56
- Бөлім: Reviews and Theoretical Articles
- URL: https://journals.rcsi.science/1022-7954/article/view/188762
- DOI: https://doi.org/10.1134/S102279541801009X
- ID: 188762
Дәйексөз келтіру
Аннотация
Voltage-gated sodium channels are heteromeric transmembrane proteins involved in the conduction of sodium ion currents in response to membrane depolarization. In humans, nine homologous genes, SCN1A–11A, which encode different isoforms of the voltage-gated sodium channel family, are known. Sodium channel isoforms exhibit different kinetic properties that determine different types of neurons. Mutations in different channels are described in patients with various congenital disorders, from epilepsy to congenital insensitivity to pain. This review presents an analysis of the current literature on the properties of different isoforms of voltage-gated sodium channels and associated diseases.
Негізгі сөздер
Авторлар туралы
A. Marakhonov
Research Centre for Medical Genetics; Moscow Institute of Physics and Technology
Хат алмасуға жауапты Автор.
Email: marakhonov@generesearch.ru
Ресей, Moscow, 115478; Dolgoprudny, Moscow oblast, 141701
G. Varenikov
Moscow Institute of Physics and Technology
Email: marakhonov@generesearch.ru
Ресей, Dolgoprudny, Moscow oblast, 141701
M. Skoblov
Research Centre for Medical Genetics; Moscow Institute of Physics and Technology
Email: marakhonov@generesearch.ru
Ресей, Moscow, 115478; Dolgoprudny, Moscow oblast, 141701