Table 4. COS for patients with homozygous mutations.
| Patient* | Mutation | Seizures | Cognitive Disorders | Brain malformations | Muscle/ Movement Control |
COS |
|---|---|---|---|---|---|---|
| 5 | I372F | 3 | - | 3 | 3 | 9 |
| 8 | C291Y | 1 | 1 | - | - | 2 |
| 17 | R362C | 1 | 1 | - | - | 2 |
| 44 | A389V | - | 1 | - | 2 | 3 |
| 45 | A389V | 1 | 2 | - | 2 | 5 |
| 46 | A802V | 0 | 0 | - | 2 | 2 |
| 47 | A802V | 0 | 0 | - | 0 | 0 |
| 48 | A802V | 0 | 0 | - | 0 | 0 |
| 49 | A802V | 0 | 1 | - | 2 | 3 |
| 50 | R739H | 1 | 1 | - | 2 | 4 |
| 53 | Y623H | 1 | 1 | - | 1 | 3 |
| 58 | Y164H | 1 | 2 | 0 | 2 | 5 |
| 59 | Y164H | 1 | 2 | - | 1 | 4 |
| 60 | Y164H | 1 | 1 | - | 0 | 2 |
| 62 | Y161C | 3 | 3 | 3 | 3 | 12 |
| 63 | R988Q | 1 | - | 3 | 3 | 7 |
| 72 | P949L | 3 | 3 | 3 | - | 9 |
| 75 | P581R | 1 | 3 | 3 | - | 7 |
| 77 | A202V | 1 | 1 | - | - | 2 |
| 78 | H950R | 3 | 3 | 3 | - | 9 |
| 79 | Q366R | 1 | 2 | - | - | 3 |
| 81 | R515S | 3 | 3 | 3 | - | 9 |
| 83 | T269M | 1 | 1 | - | - | 2 |
| 130 | D198V | 3 | - | 3 | 3 | 9 |
*Number assigned on basis of S4A Table