Table 2. Clinical features of patients with mutation in PRRT2 and SLC2A1.

No.	Age/sex	Phenotype	Family history	Gene	Nucleotide change	Amino acid change	Inheritance	Reference
1*	M/22	PKD	Yes	PRRT2	c.629delC	p.Pro210Glnfs*19	NA	CD128941
2*	M/24	PKD	Yes	PRRT2	c.629delC	p.Pro210Glnfs*19	NA	CD128941
3	M/12	PKD	Yes	PRRT2	c.629delC	p.Pro210Glnfs*19	NA	CD128941
4	F/31	PKD	Yes	PRRT2	c.649delC	p.R217Efs*12	Paternal	CI120173
5	F/10	PKD	No	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
6	F/15	PKD	No	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
7	F/7	PKD	No	PRRT2	c.649dupC	p.R217Pfs*8	De novo	CI120173
8	M/24	PKD	Yes	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
9	F/17	PKD	No	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
10	M/19	PKD	Yes	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
11	M/18	PKD	Yes	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
12	F/16	PKD	No	PRRT2	c.649dupC	p.R217Pfs*8	NA	CI120173
13	M/14	PKD	Yes	PRRT2	c.649dupC	p.R217Pfs*8	Paternal	CI120173
14	M/14	PKD	No	PRRT2	c.649delC	p.R217Efs*12	De novo	CD126062
15	M/7	PKD	No	PRRT2	c.649delC	p.R217Efs*12	NA	CD126062
16	M/27	PKD	Yes	PRRT2	c.913G>A	p.Gly305Arg	Maternal	CM120147
17	F/21	PKD	No	PRRT2	c.914_931delinsAGACGCT	p.Gly305Glufs*31	NA	Novel
18	M/21	PKD	Yes	PRRT2	c.387dupA	p.Ala130Serfs*4	Paternal	Novel
19	M/16	PNKD	No	SLC2A1	c.276-1G>A	splicing site	De novo	CS1515747
20	M/13	PED	Yes	SLC2A1	c.997C>T	p.R333W	Maternal	CM002410

^*Two siblings from the same family had no parental history, although both parents were not tested.

NA: not available, PED: paroxysmal exercise-induced dyskinesia, PKD: paroxysmal kinesigenic dyskinesia, PNKD: paroxysmal nonkinesigenic dyskinesia.