Table 4. Clinical Severity scores and Experimental Measurement scores for each patient in the study.
1A = frequency of seizures; 1B = intensity and duration of seizures; 1C = falls or injuries during seizures; 1D = amount of antiseizure medications (ASMs)/therapy for epilepsy; 2A = frequency of movement disorders; 2B = intensity and duration of dyskinetic crises; 2C = falls or injuries experienced during dyskinetic crises or as a result of any movement disorders; 2D = amount of medication/therapy for control of the movement disorders.
| Patient | GNAO1 Variant | Current age | 1A | 1B | 1C | 1D | Epilepsy (1A+1B+ 1C+1D) /4 | 2A | 2B | 2C | 2D | Movement disorders (2A+2B+ 2C+2D) /4 | Gross motor development | Language development | Feeding | GNAO1-related disorders severity score | mild (0–3.9), moderate (4,0–7.9), severe (>8) | Expression | Trimer formation | Loss of function | Dominant negative activity | Receptor interaction | Experimental measure Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | G40R | 8,6 | 0 | 0 | 0 | 1 | 0,3 | 1 | 1 | 1 | 0 | 0,8 | 2 | 2 | 0 | 5,0 | moderate | 3 | 2 | 3 | 1 | −2 | 7 |
| P2 | K46R | 4,7 | 0 | 0 | 0 | 0 | 0,0 | 1 | 0 | 1 | 0 | 0,5 | 0 | 2 | 0 | 2,5 | mild | 0 | 0 | 2 | 0 | 3 | 5 |
| P3 | T48I | 0,91 | 3 | 3 | 2 | 3 | 2,8 | 1 | 2 | 1 | 0 | 1,0 | 4 | 2 | 0 | 9,8 | severe | 3 | 3 | 3 | 2 | −1 | 10 |
| P4 | T182I | 12,2 | 1 | 2 | 1 | 1 | 1,3 | 3 | 3 | 2 | 3 | 2,8 | 4 | 2 | 1 | 11,0 | severe | 2 | 3 | 3 | 2 | 0 | 10 |
| P5 | T182I | Exitus | 3 | 3 | 3 | 3 | 3,0 | 3 | 3 | 3 | 3 | 3,0 | 4 | 2 | 1 | 13,0 | severe | 2 | 3 | 3 | 2 | 0 | 10 |
| P6 | L199P | Exitus | 2 | 2 | 3 | 3 | 2,5 | 3 | 3 | 3 | 3 | 3,0 | 4 | 2 | 1 | 12,5 | severe | 3 | 3 | 3 | 1 | −3 | 7 |
| P7 | R209P | 8,1 | 0 | 0 | 0 | 0 | 0,0 | 1 | 1 | 0 | 2 | 1,0 | 0 | 1 | 0 | 2,0 | mild | 0 | 0 | 3 | 3 | 1 | 7 |
| P8 | Y231C | 12,9 | 3 | 1 | 1 | 2 | 1,8 | 1 | 0 | 0 | 1 | 0,5 | 3 | 2 | 0 | 7,3 | moderate | 1 | 2 | 2 | 0 | −1 | 4 |
| P9 | L235P | 3,6 | 0 | 0 | 0 | 0 | 0,0 | 1 | 0 | 1 | 0 | 0,5 | 0 | 2 | 0 | 2,5 | mild | 0 | 0 | 2 | 0 | 0 | 2 |
| P10 | Y291R | 15,9 | 0 | 0 | 0 | 0 | 0,0 | 3 | 2 | 2 | 1 | 2,0 | 0 | 2 | 1 | 5,0 | moderate | 1 | 0 | 2 | 0 | 0 | 3 |
| P11 | G203R | 3,9 | 3 | 1 | 1 | 2 | 1,8 | 3 | 3 | 2 | 3 | 2,8 | 4 | 2 | 0 | 10,5 | severe | 0 | 1 | 2 | 1 | 3 | 7 |
| P12 | G203R | 0,91 | 1 | 2 | 1 | 3 | 1,8 | 1 | 0 | 0 | 0 | 0,3 | 4 | 2 | 0 | 8,0 | severe | 0 | 1 | 2 | 1 | 3 | 7 |
| P13 | G203R | 1,25 | 0 | 0 | 0 | 0 | 0,0 | 3 | 3 | 2 | 2 | 2,5 | 4 | 2 | 1 | 9,5 | severe | 0 | 1 | 2 | 1 | 3 | 7 |
| P14 | R209C | 11,5 | 0 | 0 | 0 | 0 | 0,0 | 1 | 0 | 2 | 3 | 1,5 | 0 | 1 | 0 | 2,5 | mild | 0 | 0 | 2 | 1 | 0 | 3 |
| P15 | R209C | 9 | 0 | 0 | 0 | 0 | 0,0 | 3 | 1 | 1 | 2 | 1,8 | 0 | 1 | 0 | 2,8 | mild | 0 | 0 | 2 | 1 | 0 | 3 |
| P16 | E237K | 8,8 | 0 | 0 | 0 | 0 | 0,0 | 3 | 2 | 1 | 2 | 2,0 | 3 | 1 | 0 | 6,0 | moderate | 0 | 0 | 1 | 0 | 2 | 3 |