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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 Ca 2+ -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.

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family