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

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 that encodes the alpha-1-subunit of the skeletal muscle L-type voltage-dependent calcium channel. Mutations in may alter the structure of CACNA1S and affect the functions of calcium channels, which damages Ca-mediated excitation-contraction coupling. In this research, we identified and described a Chinese HypoPP patient with a novel frameshift mutation in [NM_000069.2: c.1364delA (p.Asn455fs)] by targeted sequencing. This study would expand the spectrum of mutations, further our understanding of HypoPP, and provided a new perspective for selecting effective treatments.