Open AccessGenetic defects in ion channels and neurological diseases in clinical, genetic and physiological aspects
Author(s) -
А. Л. Зефиров,
А. Л. Зефиров,
Э. И. Богданов,
Э. И. Богданов,
А. Т. Заббарова,
А. Т. Заббарова,
Marat A. Mukhamedyarov,
М А Мухамедьяров
Publication year - 2000
Publication title -
nevrologičeskij vestnik
Language(s) - English
Resource type - Journals
eISSN - 2304-3067
pISSN - 1027-4898
DOI - 10.17816/nb77774
Subject(s) - ion channel , neuroscience , pathogenesis , mutation , bioinformatics , medicine , biology , gene , genetics , computational biology , pathology , receptor
Since the 90s, mutations in genes encoding ion channel proteins have been described. These mutations are responsible for the development of a number of neurological diseases called canalopathies (CP) [30, 36]. It is of interest to study the clinical features of hereditary neurological diseases, the pathogenesis of which are genetic defects in ion channels, from a single angle of view, as well as an attempt to analyze the probable physiological processes underlying these diseases. This approach may be important for a new systematization of these diseases, usually belonging to different groups, and for the development of a modern strategy for their therapy.