Table 1 List of the eIF2B-mutated patients selected for this study

569-3

c.338G > A/c.766-1G > A (EIF2B5)

p.Arg113His/p.256_281del

40 ± 2

571-1

c.166T > G/c.944G > A (EIF2B5)

p.Phe56Val/p.Arg315His

40 ± 3

357-2

c.406C > T/c.1015C > T(EIF2B5)

p.Arg136Cys/p.Arg339Trp

44.5 ± 4.5

1078-1

c.407G > A/c.407G > A (EIF2B5)

p.Arg136His/p.Arg136His

49.6 ± 5.7

432-2

c.271A > G/c.1015C > T (EIF2B5)

p.Thr91Ala/p.Arg339Trp

53.9 ± 0,.9

522-1

c.47C > A/c.338G > A (EIF2B5)

p.Ala16Asp/p.Arg113His

54 ± 6

648-1*

c.638A > G/c.638A > G (EIF2B2)

p.Glu213Gly/p.Glu213Gly

59 ± 1

648-2*

c.638A > G/c.638A > G (EIF2B2)

p.Glu213Gly/p.Glu213Gly

64 ± 4

1014-1

c.338G > A/c.583C > T(EIF2B5)

p.Arg113His/p.Arg195Cys

68 ± 4

338-1

c.338G > A/c.338G > A (EIF2B5)

p.Arg113His/p.Arg113His

75.2 ± 1.5

370-2

c.338G > A/c.584G > A(EIF2B5)

p.Arg113His/p.Arg195His

77 ± 2.5

630-1

c.338G > A/c.338G > A (EIF2B5)

p.Arg113His/p.Arg113His

77.5 ± 2.5

1241-1*

c.338G > A/c.338G > A (EIF2B5)

p.Arg113His/p.Arg113His

NA

807-1*

c.338G > A/c.338G > A (EIF2B5)

p.Arg113His/p.Arg113His

67 ± 4.3