Abstract
Hypokalemic periodic paralysis (HypoPP) is a rare autosomal dominant disorder characterized by episodic flaccid paralysis with concomitant hypokalemia. More than half of patients were associated with mutations in CACNA1S that encodes the alpha-1-subunit of the skeletal muscle L-type voltage-dependent calcium channel. Mutations in CACNA1S may alter the structure of CACNA1S and affect the functions of calcium channels, which damages Ca2+-mediated excitation-contraction coupling. In this research, we identified and described a Chinese HypoPP patient with a novel frameshift mutation in CACNA1S [NM_000069.2: c.1364delA (p.Asn455fs)] by targeted sequencing. This study would expand the spectrum of CACNA1S mutations, further our understanding of HypoPP, and provided a new perspective for selecting effective treatments.
Highlights
Hypokalemic periodic paralysis (HypoPP) is a rare neuromuscular disorder with an estimated prevalence of 1/100,000 (Hirano et al, 2011)
This study would expand the spectrum of CACNA1S mutations, further our understanding of HypoPP, and provide a new perspective for selecting effective treatments
The proband could walk independently on flat ground at a slow pace after getting up in the morning but was unable to walk without support later
Summary
Hypokalemic periodic paralysis (HypoPP) is a rare neuromuscular disorder with an estimated prevalence of 1/100,000 (Hirano et al, 2011). HypoPP, hyperkalemic paralysis (HyperPP) and Andersen-Tawil syndrome (ATS) constitute the dominant types of primary periodic paralysis (PPs) (Statland et al, 2018). The occurrence of the first attack is usually within the first or second decade, and every attack can last from hours to days (Houinato et al, 2007). It is triggered by the before rest after vigorous exercise, carbohydrate-rich diets, and exposure to heat or cold. Some may die of respiratory paralysis or arrhythmia (Alhasan et al, 2019)
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