Table 1.

Summary of the WES analysis in families 1–3.

Patient	1_II.11		1_III.1 0		2_II.5		2_II.6		2_III.6		2_III.7		3_II.1		3_II.2
Type of variant	SNV	Indel	SNV	Indel	SNV	Indel	SNV	Indel	SNV	Indel	SNV	Indel	SNV	Indel	SNV	Indel
Total number of variants	49953	7942	49610	7948	49531	7991	48192	7593	50611	8083	50284	7942	50070	7963	50544	8006
Variants with an allele frequency <1%	1782	590	1732	588	1761	615	1897	628	2065	671	2223	649	2100	626	1880	600
Exclusion of 5′UTR, 3′UTR and intron locations without local splice effect prediction	954	69	917	77	986	79	1076	79	1189	91	1240	75	1145	97	1011	87
Exclusion of synonymous variants without local splice effect prediction	706	64	679	70	696	75	781	73	839	87	887	69	840	94	716	82
Variants consistent with dominant transmission	1 heterozygous variant in CACNA1S

One heterozygous variant common to all the affected patients (1_III.10, 2_II.5, 2_III.6, 2_III.7, 3_II.1, and 3_II.2) in the genes CACNA1S, was selected for further investigation after exclusion of mutations located in the 5′UTR, 3′UTR, intron, along with synonymous variants without predicted splicing effects.