Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...

Brain development and interictal function are unaffected in many paroxysmal neurological channelopathies, possibly explained by homoeostatic plasticity of synaptic transmission. Episodic ataxia type 1 is caused by missense mutations of the potassium channel Kv1.1, which is abundantly expressed in the terminals of cerebellar basket cells. Presynaptic action potentials of small inhibitory termina...

characterized by muscle stiffness and an inability of the muscle to quickly relax after voluntary contraction. although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. myotonia causes muscle stiffness (a myotonic disorder should be considered in the differential diagnosis of a patient complaining of muscle stiffness) that can...

Brugada syndrome is an inherited channelopathy associated with an increased risk of syncope and sudden cardiac death. In rare cases it can be manifested with electrical storm. We report two cases of Brugada syndrome that presented with electrical storm and were treated successfully with oral quinidine, an "endangered species" drug.

http://www.sciencemag.org/cgi/content/full/305/5683/532 version of this article at: including high-resolution figures, can be found in the online Updated information and services, http://www.sciencemag.org/cgi/content/full/305/5683/532/DC1 can be found at: Supporting Online Material found at: can be related to this article A list of selected additional articles on the Science Web sites http://w...

INTRODUCTION AND OBJECTIVES Cardiomyopathy and channelopathy are major causes of sudden death (SD). The little information available on the context in which SD occurs has come from only a few referral centers. The objective was to investigate the circumstances surrounding SD in families with inherited heart disease. METHODS The study included 152 SD patients (mean age 43+/-19 years) from 103 ...

Brugada syndrome (BS) is a genetic channelopathy, clinically characterized by an increased risk of sudden cardiac death. The diagnosis requires typical electrocardiographic pattern, and data on stratification are limited in the literature. aim this study was to conduct review importance exercise stress test (EST) BS. Articles were searched PubMed, Scielo Google Scholar databases. From 200 artic...