Clinical characteristics of children with Angelman syndrome in this study
| Characteristic | Angelman Syndrome (n = 14) | |
|---|---|---|
| Age (months) | 95.9 ± 57.8 (range, 3–18 years) | |
| Sex (male:female) | 7:7 | |
| Genetic mutation | UBE3A (15q11-q13 deletions) | 13 |
| Paternal UPD | 1 | |
| Seizure | 10 (71.4%) | |
| Use of at least 1 meaningful word | 5 (35.7%) | |
| Walking alone | 11 (78.6%) | |
| Ataxia or tremor | 10 (71.4%) | |
| Strabismus | 5 (35.7%) | |
| Ataxia and unable to walk alone | 3 (21.4%) | |
| Ataxia but walking alone | 7 (50.0%) | |
| No ataxia (walking alone) | 4 (28.6%) | |
Note: UPD indicates uniparental disomy.