Table 1

Mutations in the PRRT2 gene by Sanger sequencing

Sample	Mutation	Exon	Amino acid change	SIFT and Polyphen predictions
Family 1	c.859G→A	2	p.A287T	Damaging
Family 2	c.649dupC	2	p.R217PfsX8	–
Family 4	c.369dupG	2	p.S124VfsX10	–
6	c.649dupC	2	p.R217PfsX8	–
11	c.649dupC	2	p.R217PfsX8	–
16	c.649dupC	2	p.R217PfsX8	–
17	c.649dupC	2	p.R217PfsX8	–
18	c.649dupC	2	p.R217PfsX8	–
22	c.1011_1012delCG+1_9delGTGAGTGGG	3	Splice-site	–
26	c.964delG	3	p.V322WfsX15	–
27	c.841T→C	2	p.W281R	Damaging
28	c.649dupC	2	p.R217PfsX8	–
29	c.922C→T	3	p.R308C	Damaging