Table 1 Distribution of CDKL5 mutations within our study group

No functional protein

c.-253-?_-163 + ?del

p.(0)

1

2 (F)

Yes

Yes [4]

No functional protein

c.-253-?_-163 + ?del

p.(0?)

1

1 (F)

Yes

Yes [4]

No functional protein

c.-253-?_99 + ?del

p.(0)

1–3

1 (F)

Yes

Yes [4]

No functional protein

c.64 + 2 T > C

p.(0)

2

1 (F)

Yes

No

No functional protein

c.64 + 1G > A

p.(0)

2

1 (F)

Yes

Yes [4]

No functional protein

c.-162-?_99 + ?del

p.(0)

2–3

1 (F)

Yes

Yes [4]

No functional protein

c.-162-?_99 + ?

p.(0)

2–3

1 (F)

No

No

No functional protein

c.-253-?_*1085del

p.(0)

1–21+

1 (F)

No

No

No functional protein

c.-253-?_*1085del

p.(0)

1–21

3(F)

No

No

No functional protein

c.-253-?_*1085del

p.(0)

1–21+

1 (F)

No

No

No functional protein

c.-253-?_*1085del

p.(0)

1–21+

1 (F)

Yes

Yes [4]

No functional protein

c.-253-?_*1085del

p.(0)

1–21+

1 (F)

No

No

No functional protein

c.65-?_99 + ?del

p.(Ala23Asnfs*3)

3

2 (F and M)

Yes

Yes [4]

No functional protein

c.99 + 5G > A

p.Ala23Asnfs*3

3

1 (F)

Yes

Yes [2, 4]

No functional protein

c.100-?_*1085del

p.(?)

4–21+

1 (F)

No

No

No functional protein

c.146-1G > A

p.(Asn50Tyrfs*15)

5

1 (M)

No

No

No functional protein

c.146-6 T > G

p.(Glu49Valfs*2)

5

1 (F)

No

No

No functional protein

c.146-?_282 + ?del

p.(Asn50Tyrfs*15)

5

1 (F)

Yes

Yes [4]

No functional protein

c.163_166delGAAA

p.Glu55Argfs*20

5

1 (F)

Yes

No

No functional protein

c.175C > T

p.Arg59*

5

5 (4 and 1 M)

Yes

Yes [4, 18, 19]

No functional protein

c.183delT

p.Met63Cysfs*13

5

2 (F, twins)

Yes

Yes [4]

No functional protein

c.220G > T

p.Glu74*

5

1 (F)

No

No

No functional protein

c.282 + 3_282 + 6delAAGT

p.(Asn50Tyrfs*15)

5

2 (F)

Yes

Yes [4]

No functional protein

c.283-3_290del

p.(Asn95Ilefs*2)

5

2 (F, sisters)

Yes

Yes [2, 4]

No functional protein

c.339ins1

p.?

6

1 (F)

No

No

No functional protein

c.351 T > A

p.Tyr117*

6

1 (M)

No

No

No functional protein

c.400C > T

p.Arg134*

6

2 (F and M)

Yes

Yes [4, 20]

No functional protein

c.456_457delTG

p.Cys152*

7

1 (F)

No

No

No functional protein

c.464-2A > G

p.Gly155Alafs*43

7

1 (M)

Yes

No

No functional protein

c.506_507delAC

p.Thr168Argfs*36

8

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.38 T > C

p.Phe13Ser

2

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.58G > C

p.Gly20Arg

2

1 (F)

Yes

Yes [4, 8]

Missense/in-frame mutation within catalytic domain

c.100-9_100-3delCCCTTGCinsGCAGA

p.(Lys33dup)

4

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.119C > T

p.Ala40Val

4

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.191 T > C

p.Leu64Pro

5

1 (M)

Yes

Yes [4, 21]

Missense/in-frame mutation within catalytic domain

c.214_216del

p. Ile72del

5

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.215 T > C

p.Ile72Thr

5

1 (F)

Yes

No

Missense/in-frame mutation within catalytic domain

c.364G > A

p.Ala122Thr

6

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.377G > A

p.Cys126Tyr

6

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.395 T > G

p.Val132Gly

6

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.404A > G

p.(Asp135_Phe154del)

7

1 (M)

No

No

Missense/in-frame mutation within catalytic domain

c.404-3C > A

p.(Asp135_Phe154del)

7

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.428 T > A

p. Ile143Asn

7

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.458A > T

p. Asp153Val

7

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.463 + 1G > A

p.Asp135_Phe154del

7

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.473G > C

p.Arg158Pro

8

1 (M)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.514G > A

p.Val172Ile

8

1 (M)

No

No

Missense/in-frame mutation within catalytic domain

c.526 T > C

p.Trp176Arg

8

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.532C > T

p.Arg178Trp

8

2 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.536C > T

p. Ser179Phe

8

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.577G > C

p.Asp193His

9

1 (F)

No

No

Missense/in-frame mutation within catalytic domain

c.587C > T

p.Ser196Leu

9

5 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.595 T > C

p.Cys199Arg

9

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.620G > A

p.Gly207Glu

9

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.656A > C

p.Gln219Pro

9

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.680 T > C

p.Leu227Pro

9

1 (F)

Yes

Yes [4]

Missense/in-frame mutation within catalytic domain

c.872G > A

p.Cys291Tyr

11

1 (F)

Yes

No

Truncation occurring between aa 172 and 781

c.670C > T

p.Gln224*

9

1 (M)

No

No

Truncation occurring between aa 172 and 781

c.556_557delGC

p.Ala186Serfs*19

9

1 (M)

No

No

Truncation occurring between aa 172 and 781

c.745-?_977 + ?del

p.(Phe249Lysfs*16)

10–11

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.801_802delAT

p.Asn267Lysfs*5

11

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.857dupA

p.Tyr286*

11

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.859_868del10

p.Leu287Serfs*3

11

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.978-?_2980 + ?del

p.?

12+

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.1039C > T

p.Gln347*

12

1 (F)

Yes

No

Truncation occurring between aa 172 and 781

c.1371dupA

p.Leu458Thrfs*5

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1375C > T

p.Gln459*

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1446delC

p.Tyr482*

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1470_1471delGG

p.Ala491Thrfs*3

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1499ins4

p.?

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1547_1554del8

p.Tyr516Phefs*2

12

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.1581del

p.Pro527fs

12

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.1648C > T

p.Arg550*

12

4 (F)

Yes

Yes (1 child [4])

Truncation occurring between aa 172 and 781

c.1671dupA

p.Arg558Thrfs*9

12

1 (F)

Yes

No

Truncation occurring between aa 172 and 781

c.1675C > T

p.Arg559*

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1782 T > G

p.Tyr594*

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.1791delC

p.Tyr598Thrfs*18

12

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.2038A > T

p.Lys680*

13

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.2047-1G > A

p.Gly683Valfs*101

13

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.2047-2A > G

p.Gly683Cysfs*66

13

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.2072_2073delCT

p.Ser691*

14

1 (F)

Yes

Yes [4]

Truncation occurring between aa 172 and 781

c.2258_2259delAA

p.Gln753Profs*10

15

1 (F)

No

No

Truncation occurring between aa 172 and 781

c.2376 + 5G > A

p.(Lys760Tyrfs*10)

16

1 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2374dupA

p.Thr792Asnfs*9

16

1 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2377-8 T > A

p.(Val793Leufs*2)

16

1 (F)

No

No

Late truncation after aa 781

c.2413C > T

p.Gln805*

17

1 (M)

No

No

Late truncation after aa 781

c.2420_2430del

p.Ser807Cysfs*2

17

1 (M)

No

No

Late truncation after aa 781

c.2504delC

p.Pro835Hisfs*2

17

1 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2477-?_2713 + ?del

p.(Ser833Thrfs*22)

17

2 (F)

No

No

Late truncation after aa 781

c.2564C > G

p.Ser855*

18

2 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2572delC

p.Arg858Alafs*5

18

1 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2635_2636delCT

p.Leu879Glufs*30

18

2 (F)

Yes

Yes [4]

Late truncation after aa 781

c.2711delC

p.Pro904Glnfs*23

18

1 (F)

Yes

Yes [4]

Mutations not grouped

c.1612A > G

p.Thr538Ala

1

1 (M)

No

No

c.2684C > T

p.Pro895Leu

18

1 (F)

No

No

c.65-?_1944 + ?dup

p.(?)

3–12

1 (M)

No

No

c.146-?_463 + ?dup

p.(?)

5–7

1 (F)

No

No

(Position uncertain)

p.(?)

1–3

1 (M)

Yes

Yes [4]

c.745-2A > G

p.(Phe249_Lys275del)

10

1 (F)

Yes

Yes [4]

c.825 + 1G > A

p.(Phe249_Lys275del)

10

1 (F)

Yes

Yes [4]

c.825 + 1G > T

p.(Phe249_Lys275del)

10

1 (F)

Yes

No

c.1030_1031insGAC

p.Lys344delinsArgGln

12

1 (F)

Yes

Yes [4]

c.2276 + 1G > A

p.(Val718_Trp759delinsGly)

15

1 (F)

Yes

Yes [4]