نتایج جستجو برای: calcium channelopathy
تعداد نتایج: 167790 فیلتر نتایج به سال:
BACKGROUND Sick sinus syndrome (SSS) is a common arrhythmia often associated with aging or organic heart diseases but may also occur in a familial form with a variable mode of inheritance. Despite the identification of causative genes, including cardiac Na channel (SCN5A), the pathogenesis and molecular epidemiology of familial SSS remain undetermined primarily because of its rarity. METHODS ...
BACKGROUND/AIMS SCN5A encodes the cardiac-specific Na(V)1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel α-subunit (SCN5A) mutation. The SCN5A-encoded Na(V)1.5 channel is also found on gastrointestinal smooth muscle and interstitial cells of Cajal. We investigated the relationship between functional dyspepsia (FD) and SCN5A mutation to eva...
Classically, genetic testing has been reserved for individuals with a reasonable pre-test probability of disease. However, the use commercial preventative (PGT) to identify asymptomatic at risk various heritable disorders, most commonly those linked cancer and cardiovascular disease, increased significantly. To describe our experience regarding incidentally discovered pathogenic (P)/likely (LP)...
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