cacna1s

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families Abstract This study describes five families (14 individuals) with hypokalemic periodic paralysis carrying a heterozygous pathogenic...

Abstract Objective: This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. Methods: Four symptomatic and three asymptomatic individuals from two generations underwent clinical, neurophysiological, imaging, and muscle biopsy examinations...