SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies
نویسندگان
چکیده
منابع مشابه
Sodium channelopathies in skeletal muscle and brain
Ion channel disorders are rare inherited diseases providing interesting models to study dysfunction of excitability in vivo and in vitro. The first socalled ‘channelopathies’ identified were skeletal muscle diseases, the myotonias and hyperkalemic periodic paralysis (HyperPP), which are sodium or chloride channel disorders. Within the last 5–10 years, complementary genetic and electrophysiologi...
متن کاملClinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
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the skill of reading in english as a foreign language is an important and challenging one which is affected both by linguistic and extra linguistic factors. since vocabularies are part and parcel of every reading comprehension text, knowing enough vocabulary always facilitates this process. however, guessing strategy as one of the most important strategies has consistently ignored by language l...
15 صفحه اولCardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation☆
BACKGROUND Phenotypes often differ even within family members carrying the same SCN5A mutation. We aimed to evaluate the genetic modifiers in a family with Brugada syndrome (BrS) and sick sinus syndrome (SSS) with an SCN5A mutation that causes the truncated alpha-subunit of cardiac Na channel protein. METHODS To detect the genetic modifiers, we performed targeted panel sequencing of the codin...
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Skeletal myoblasts form grafts of mature muscle in injured hearts, and these grafts contract when exogenously stimulated. It is not known, however, whether cardiac muscle can form electromechanical junctions with skeletal muscle and induce its synchronous contraction. Here, we report that undifferentiated rat skeletal myoblasts expressed N-cadherin and connexin43, major adhesion and gap junctio...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2015
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2015.125