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Table 1 Clinical features and PRRT2 mutations in the probands of 22 BFIE families

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

Family No.

Proband

Sex

Age of seizure onset

Age at last follow-up

Nucleotide change

Amino acid change

1

V-15

F

4.5 m

4y5 m

c.649_650insC

p.R217PfsX8

2

V-1

F

5 m

10 m

c.649_650insC

p.R217PfsX8

3

IV-9

F

4 m

1y

c.649_650insC

p.R217PfsX8

4

IV-3

F

4.5 m

2y5m

c.649_650insC

p.R217PfsX8

5

IV-1

F

7 m

1y2m

c.649_650insC

p.R217PfsX8

6

IV-3

F

4.5 m

2y9m

c.649_650insC

p.R217PfsX8

7

III-4

F

3.5 m

4y

c.649_650insC

p.R217PfsX8

8

II-3

M

3.5 m

8 m

c.649_650insC

p.R217PfsX8

9

III-1

F

5 m

4y5m

c.649_650insC

p.R217PfsX8

10

III-1

F

3.5 m

5y8m

c.649delC

p.R217EfsX12

11

III-1

M

3 m

3y2m

c.649delC

p.R217EfsX12

12

III-1

M

4 m

8 m

c.649delC

p.R217EfsX12

13

IV-1

M

6 m

3y

c.904_905insG

p.D302GfsX39

14

IV-20

M

3 m

6y10m

none

none

15

III-1

M

3.5 m

5y11m

none

none

16

III-4

F

6 m

2y11m

none

none

17

III-2

M

4 m

5y7m

none

none

18

III-1

M

4.5 m

3y

none

none

19

III-1

M

3 m

1y

none

none

20

III-4

F

10 m

1y10m

none

none

21

IV-1

F

11 m

2y1m

none

none

22

IV-1

F

8 m

3y7m

none

none

  1. M: male, F: female, y: years, m: months.