Table 1 Comparison of PCDH19 mutations identified in this study (bold) and previously described PCDH19 mutations in females with EIEE9

c.445C > T p.Pro149Ser

1

Missense

17

normal

[19]

c.695A > G (p.Asn232Ser)

1

Missense

4

intellectual disability

[20]

c.918C > G, p.Tyr306*

1

Nonsense

20

normal

[21]

c.937G > A p.Glu307Lys

1

Missense

70

normal

[19]

c.919G > A p.Glu313Lys

1

Missense

32

normal

[19]

c.1183C > T (p.Arg395*)

1

Nonsense

8

intellectual disability

[22]

c.1236C > A (p.Asp412Glu)

1

Missense

38

normal

This study (Patient 2)

c.1681C > T, p.Pro561Ser

1

Missense

14

normal

[21]

c.1765_1766delTG p.Val589CysfsX8

1

Frameshift

9

intellectual disability

[19]

c.2386_2387insGTCT (p.Thr796fs)

3

Frameshift

36

normal

This study (Patient 1)

c2468delT, p.L823fs

3

Frameshift

18

intellectual disability

[23]