Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal,
often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid …

Periodic paralyses are rare diseases characterized by severe episodes of muscle weakness
concomitant to variations in blood potassium levels. It is thus usual to differentiate …

Ions in water are the liquid of life. Life occurs almost entirely in “salt water.” Life began in
salty oceans. Animals kept that salt water within them when they moved out of the ocean to …

Recent discoveries in the skeletal muscle channelopathies have increased our
understanding of the genetics and pathophysiology of these diseases. Studies reporting …

Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …

Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium
and potassium channel activation and inactivation are the basis of action potential's …

Background: Periodic paralysis is classified into hypokalemic (hypoPP) and hyperkalemic
(hyperPP) periodic paralysis according to variations of blood potassium levels during …

Objective–To review the current knowledge about primary periodic paralyses (PPs). Results–
Periodic paralyses are a heterogeneous group of disorders, clinically characterized by …

Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A. The
purpose of the present study was to optimize the genetic characterization of NDM in The …

Fever can precipitate ventricular tachycardia in adults with Brugada syndrome, but such a
link has not been reported in children. A 21-month-old white girl presented repeatedly with …