Fig. 1
Genetic studies of the family. (a) Whole-exome sequencing and confirmation by Sanger sequencing revealed that the proband was heterozygous for c.497 C > A (p.Ala166Asp) in the CACNA1S gene, which was inherited from his father. (b) The A166D variant occurs at a highly conserved position in CACNA1S of different species. (c) The predicted three-dimensional structure of the Cav1.1 protein denotes the effect of protein changes in A166D.