Table 5. COS for patients with heterozygous mutations.

Patient*	Mutation 1	Mutation 2	Seizures	Cognitive Disorders	Brain malformation	Muscle/ Movement Control	COS
1	P509A	E597K	1	-	3	2	6
3	D295Y	R536Q	3	-	-	3	6
9	A202V	IVS22+1G>C	1	1	-	-	2
10	A202V	IVS22+1G>C	1	1	-	-	2
11	A802V	IVS22+1G>A	1	1	-	-	2
12	A802V	IVS22+1G>A	1	1	-	-	2
13	A389V	IVS12+2T>G	1	1	-	-	2
14	A389V	IVS12+2T>G	1	1	-	-	2
26	P267A	K376E	1	2	-	-	3
27	R373W	intronic	1	1	-	-	2
28	R373W	M1I	1	1	-	-	2
31	H371D	del GLDC	1	-	3	3	7
51	N150T	R790W	1	3	0	2	6
52	L82W	607fs	1	1	0	2	4
54	C1002W	S419X	3	2	-	-	5
55	C1002W	S419X	-	2	-	2	4
56	Q620R	del Exon 3–9	3	-	0	3	6
57	S132L	S86Vfs_119	3	-	3	2	8
68	T894A	del Exon3	3	3	-	2	8
69	Y839C	intronic	3	-	3	3	9
73	G771R	M552V	1	-	-	2	3
74	R739H	del Exon 1–2	1	1	0	1	3
76	R461Q	del GLDC	1	2	3	2	8
85	G761R	Y632X	3	3	3	-	9
86	R515S	IVS19-1G>A	1	3	3	-	7
87	S132L	E167X	3	3	3	-	9
89	P907L	del Exon 1–24	-	3	3	-	6
90	R515S	G618R	-	3	3	-	6
91	A733V	IVS19-1G>A	1	3	-	-	4
95	R515S	IVS19-1G>A	-	3	3	-	6
97	L885P	Y637X	-	3	3	-	6
98	G771R	IVS19-1G>A	-	3	3	-	6
100	F334L	del GLDC	-	3	3	-	6
101	A389V	R515S	-	3	3	-	6
102	L548V	del GLDC	1	2	-	-	3
103	A802V	IVS22+1G>C	1	2	-	-	3
104	A802V	R515S	1	2	-	-	3
105	A389V	R515S	3	1	-	-	4
106	I381T	R461Q	1	1	-	-	2
107	A283P	R461Q	3	1	-	-	4
108	A283P	R461Q	1	1	-	-	2
109	R461Q	IVS12+2T>G	1	1	-	-	2
110	Y161C	R347S	1	1	-	-	2
111	G156R	G728E	1	1	-	-	2
112	R630P	L548V	1	1	-	-	2
113	A802E	IVS19+2T>G	1	1	-	-	2
114	V905G	G728E	1	1	-	-	2
115	G652E	R373Q	1	1	-	-	2
129	L885P	W897C	3	3	3	3	12
131	A377V	A694Dfs	3	3	0	2	8

*Number assigned on basis of S4A Table