Table 2.

Mobility level and epilepsy diagnosis by mutation group

Mutation	Mobility level n(%)			Epilepsy n(%)
	Walks unaided	Walks with assistance	Doesn’t walk/wheelchair bound	Yes	No
Carboxyl-terminal truncation	4(33)	3(25)	5(42)	9(75)	3(25)
Large deletion	0(0)	1(14)	6(86)	6(86)	1(14)
No mutation	3(15)	4(20)	13(65)	18(90)	2(10)
Other	1(12)	4(50)	3(38)	7(78)	2(22)
p.R106W	0(0)	0(0)	3(100)	2(67)	1(33)
p.R133C	2(50)	1(25)	1(25)	5(83)	1(17)
p.R168X	1(11)	3(33)	5(56)	7(70)	3(30)
p.R255X	0(0)	1(20)	4(80)	3(60)	2(40)
p.R270X	0(0)	1(33)	2(67)	3(100)	0(0)
p.R294X	4(67)	2(33)	0(0)	5(71)	2(29)
p.R306C	3(50)	2(33)	1(17)	2(33)	4(67)
p.T158M	0(0)	2(40)	3(60)	4(57)	3(43)
TOTAL	18(20)	24(27)	46(53)	71(75)	24(25)