Skip to main content

Table 1 Patients clinical features

From: Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

Patients

Age at onset (years)

Family

Phenomenolo-gy of attack

Localisation

PRRT2 mutations

Frequency of attack (per day)

Comorbidity

1

2.7

fam1

D + C

Upper and lower limbs

c.604-607delTCAC

p.S202Hfs*25

< 5

ICCA

2

7.6

fam1

C

Lower limbs

c.604-607delTCAC

p.S202Hfs*25

< 5

ICCA

3

7.8

fam2

C

Lower limbs

c.629dupC

p.Ala211Serfs*14

5 to 10

ICCA

4

2.5

fam3

D

Lower limbs

> 10

 

5

10

fam4

D

Upper and lower limbs

c.649dupC

p.Arg217Profs*8

5 to< 10

 

6

6.7

S

D

Lower limbs

< 5

 

7

9.8

S

D

Right limbs

5 to< 10

 

8

13

S

D + C

Upper and lower limbs

5 to< 10

 

9

5.2

S

D

Left lower limb

< 5

 

10

5

S

D

Lower limbs

< 5

 

11

13

S

D

Right upper limb

< 5

 

12

4.7

S

D + C

Upper and lower limbs facial

> 10

 

13

13

S

D

Upper and lower limbs

5to < 10

 

14

12.5

S

D

Lower limbs

< 5

 

15

9.6

S

D + C

Lower limbs

> 10

 

16

10.1

S

D

Right limbs

5 to< 10

 

17

3

S

C

Upper limbs

< 5

Partial epilepsy

18

7.6

S

C

Upper limbs

5 to< 10

 

19

8.2

S

D + C

Upper and lower limbs

c.649dupC

p.Arg217Profs*8

5 to< 10

 

20

10

S

D + C

Upper and lower limbs

5 to< 10

 
  1. M Male, F Female, S Sporadic, D Dystonia, C Choreoathetosis, ICCA Infantile convulsions with paroxysmal choreoathetosis