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Table 2 Clinical features and PRRT2 mutations in 31 affected members from 8 ICCA families

From: Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

    

Infantile convulsions

Paroxysmal dyskinesia

   

Family No

Individual

Phenotype

Sex

Age of seizure onset

Age of seizure remission

Age at onset

Trigger

Involuntary movements

Age at last follow-up

Nucleotide change

Amino acid change

23

I-2

PKD

M

-

-

Adolescence

SM

D

50y*

na

na

 

II-1

PKD

F

-

-

10y

SM

D

65y

c.649_650insC

p.R217PfsX8

 

III-1

ICCA

F

<12 m

24 m

9y

SM

D

42y

c.649_650insC

p.R217PfsX8

 

III-5

ICCA

M

<12 m

24 m

8y

SM

D

38y

c.649_650insC

p.R217PfsX8

 

IV-1

ICCA

M

7 m

12 m

10y

SM

D/C

11y

c.649_650insC

p.R217PfsX8

24

II-3

ICCA

F

<12 m

<24 m

7y

SM

D

34y

c.649_650insC

p.R217PfsX8

 

II-6

BIE

M

<12 m

<24 m

-

-

-

33y

na

na

 

III-3

ICCA

M

6 m

8 m

7y

SM

C

9y

na

na

 

III-4

BIE

M

4.5 m

5 m

-

-

-

6 m

c.649_650insC

p.R217PfsX8

25

I-2

PKD

M

-

-

14y

SM

C

51y

na

na

 

II-1

PKD

F

-

-

12y

SM

C

29y

c.649_650insC

p.R217PfsX8

 

III-1

BIE

M

3.5 m

5 m

-

-

-

5.5 m

c.649_650insC

p.R217PfsX8

26

II-2

PKD

M

-

-

11y

SM

D

42y

c.649delC

p.R217EfsX12

 

III-1

ICCA

F

8 m

10 m

8y

SM/S

D

16y

c.649delC

p.R217EfsX12

 

III-2

BIE

F

5 m

9 m

-

-

-

14y

na

na

27

II-2

ICCA

M

<12 m

24 m

15y

SM/S

D

50y

c.649delC

p.R217EfsX12

 

II-5

PKD

F

-

-

10y

SM

D

42y

na

na

 

III-1

PKD

F

-

-

10y

SM

D/C

26y

c.649delC

p.R217EfsX12

 

III-4

ICCA

M

5.5 m

12 m

8y

SM/S

D/C

13y

c.649delC

p.R217EfsX12

 

III-9

PKD

F

-

-

10y

SM

D

22y

na

na

 

IV-5

BIE

F

4.5 m

24 m

-

-

-

3y

na

na

28

II-1

PKD

F

-

-

5y

SM

C

35y

c.649delC

p.R217EfsX12

 

III-1

ICCA

M

4 m

4.5 m

5.5y

SM, Ex

C

12y

c.649delC

p.R217EfsX12

 

III-2

BIE

F

4 m

5 m

-

-

-

5y

c.649delC

p.R217EfsX12

29

II-2

ICCA

M

4.5 m

12 m

16y

SM

D

40y*

na

na

 

II-4

BIE

M

<12 m

<24 m

-

-

-

36y

c.514_517delTCTG

p.S172RfsX3

 

III-2

BIE

F

3 m

5 m

-

-

-

5y

c.514_517delTCTG

p.S172RfsX3

30

II-1

BIE

F

<12 m

<24 m

-

-

-

83y

na

na

 

III-7

BIE

F

3 m

24 m

-

-

-

50y

na

na

 

III-10

ICCA

M

3 m

9 m

12y

SM

D

41y

c.1023A > T

X341C

 

IV-5

BIE

M

4 m

8 m

-

-

-

3y9m

c.1023A > T

X341C

  1. PKD: paroxysmal kinesigenic dyskinesias, BIE: benign infantile epilepsy, ICCA: infantile convulsions with paroxysmal choreoathetosis, M: male, F: female, y: years, m: months, -: negative, SM: sudden movement, S: startle, Ex: exercise, D: dystonia, C: choreoathetosis, na: not available, *deceased.
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BMC Neurology

ISSN: 1471-2377

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