A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion

Table 1

The clinical features and identified PRRT2 mutations of 13 sequenced individuals with PKD/IC.

Code number	Gender	Family/sporadic	Age at onset	Main symptoms	Drug treatment	PRTT2 mutation	Amino acids changes	Duration of attacks	Frequency of attacks	Involuntary movement
F1 (AIII-1)	M	Familial A	3 m	Upper limb dance-likemovement	CBZ	c.650_670delinsCAATGGTGCCACCACTGGGTTA	p.R217Pfs8	20 sec	10/d	>2 m
F2 (AIII-2)	M	Familial A	3 m	Upper limb dance-likemovement	CBZ	c.650_670delinsCAATGGTGCCACCACTGGGTTA	p.R217Pfs8	20 sec	10/d	>2 m
F3 (AII-1)	F	Familial A	20 y	Involuntary limb swinging	CBZ	c.650_670delinsCAATGGTGCCACCACTGGGTTA	p.R217Pfs8	20 sec	1/m	>20 y
F4 (AII-2)	F	Familial A	22 y	Involuntary limb swinging	CBZ	c.650_670delinsCAATGGTGCCACCACTGGGTTA	p.R217Pfs8	20 sec	1/m	>22 y
F5 (BI-2)	F	Familial B	No	No	No	c.412C>G; c.686G>A	p. (Pro 138Ala) p. (Arg229 Lys)	No	No	No
F7 (BII-1)	M	Familial B	2 y	Upper limb movement	CBZ	c.412C>G; c.686G>A; c.709G>A	p. (Pro 138Ala) p. (Arg229 Lys) p. (Gly237Arg)	20 sec	5/d	>1 y
F13 (BI-1)	M	Familial B	No	No	No	Neg	Neg	No	No	No
F9 (CII-1)	F	Familial C	6 m	Sudden movement	CBZ	c.686G>A; c.743G>C	p. (Arg229 Lys) p. (Ser248Thr)	18 sec	I/m	>4 m
F10 (CI-1)	M	Familial C	20	Sudden movement	CBZ	c.686G>A	p. (Arg229 Lys)	15 sec	1/m	>20 y
F8	F	Sporadic	2 y	Dystonia in lower limbs	CBZ	c.686G>A	p. (Arg229 Lys)	2 sec	4/d	>6 m
F11	M	Sporadic	11 y	Dystonia in lower limbs	CBZ	c.686G>A	p. (Arg229 Lys)	14 sec	5/d	>8 m
F16	F	Sporadic	6 y	Sudden movement	CBZ	Neg	Neg	15 sec	1/w	2 y
H1	F	Sporadic	4 y	Sudden movement	CBZ	Neg	Neg	55 sec	1/m	2 y

M: male; F: female; Y: year; No: normal; CBZ: carbamazepine; m: month; w: week; Neg: negative.