Table 1 SLC13A5 mutations associated with epilepsy.

This study:

A

c. 655 G > A

p. G219R

Heterozygous

2

c.1475T> C

p. L492P

B

c. 680 C > T

p. T227M

Homozygous

1

C

c. 245 A > G

p. Y82C

Heterozygous

2

c. 655 G > A

p. G219R

D

c. 511delG

p. E171SfsX16

Homozygous

1

(DelG)

E

c. 1276-1G > A

Affect splice site

Heterozygous

2

c. 103-1G > A

& add intron**

F

c. 655 G > A

p. G219R

Homozygous

1

Previous studies:

A

c. 1280 C > T

p. S427L

Homozygous

(3)

B

c. 1022 G > A

p. T341*

Heterozygous

(3)

c. 1207_1217dupl 1

p. P407Rfs*12

C

c. 425 C > T

p. T142M

Heterozygous

(3)

c. 655 G > A

p. G219R

D

c. 680 C > T

p. T227M

Heterozygous

(3)

c. 1570 G > C

p. D524H

1

c. 655 G > A

p. G219R

Heterozygous

(2)

c. 680 C > T

p. T227M

2

c. 1463T > C

p. L488P

Homozygous

(2)

3

c. 655G > A

p. G219R

Heterozygous

(2)

c. 680C > T

p. T227M