Table 3 information about previously reported mutations found in the study

1

5

c.506A > T

p.Asn169Ile

5

homo

Reunert (2016) EBioMedicine 4

2

5

c.551G > A

p.Cys184Tyr

14,20

homo

Chamova (2016) Eur Neurol 75

3

8

c.1070C > T

p.Ser357Leu

25

homo

Zhonghua Er Ke Za Zhi. 2016

4

8

c.1180 T > C

p.Tyr394His

31

homo

Tonekaboni. Iranian Journal of Child Neurology, 2015

5

8

c.1192C > T

p.His398Tyr

17,33

homo

Tonekaboni. Iranian Journal of Child Neurology, 2015

6

9

c.1415 T > C

p.Leu472Pro

27,35

homo

ASL SN, Vakili R,. Iranian journal of child neurology, 2017

7

9

c.1433A > C

p.Asn478Thr

29,30,34

homo

Tonekaboni. Iranian Journal of Child Neurology, 2015

8

13

c.1990G > A

P.Val664Met

4,6,21

hetero

Park (2003) Hum Mutant 22, 313

9

18

c.2776G > A

p.Ala926Thr

1,11

homo

Fernandez-Valero (2005) Clin Genet 68, 245

10

21

c.3100G > A

p.Gly1034Arg

16,26,28

homo

Yang (2005) J Neurol Neurosurg Psychiatry 76,592