TABLE 2.
Phenotype data from literature review
| Our study | Durkin et al. (2020) | Thierry et al. (2012) | Yates et al. (2017) | Bramswig et al. (2017) | Leduc et al. (2017) | Depienne et al. (2017) | Caliebe et al. (2010) | Song et al. (2021) | Overall | |
|---|---|---|---|---|---|---|---|---|---|---|
| Neonatal hypotonia | 11/17 | n/r | n/r | 2/7 | 2/7 | 1/4 | n/r | n/r | n/r | 16/35 (45.7%) |
| Neonatal feeding difficulties | 10/17 | 10/15 | n/r | 1/6 | 3/7 | n/r | n/r | n/r | n/r | 21/37 (56.8%) |
| Intellectual disability | 16/17 | 11/21 | 11/11 | 7/7 | 6/6 | 4/4 | 7/7 | 4/4 | 1/2 | 69/79 (87.3%) |
| Global developmental delay | 17/17 | 20/20 | 11/11 | 7/7 | 5/5 | 4/4 | 7/7 | 4/4 | 2/2 | 75/75 (100%) |
| Autistic features | 8/16 | 3/21 | 4/9 | 1/5 | 4/6 | 1/4 | 1/7 | n/r | 1/2 | 23/70 (32.9%) |
| Hypotonia | 15/17 | n/r | 4/9 | 2/7 | 6/7 | 2/4 | 4/5 | 3/4 | n/r | 36/45 (80.0%) |
| Seizures | 17/17 | 20/21 | 11/11 | 5/7 | 6/6 | 4/4 | 6/7 | 4/4 | 2/2 | 75/79 (94.9%) |
| Seizures before 24 months | 12/12 | 9/10 | 10/11 | 5/6 | 5/6 | 3/4 | 6/6 | n/r | 2/2 | 52/57 (91.2%) |
| Seizure type | ||||||||||
| Tonic–clonic | 8/11 | 7/16 | n/r | 1/6 | 4/6 | 3/4 | 5/5 | n/r | 2/2 | 30/50 (60.0%) |
| Absence | 6/11 | 5/16 | n/r | 2/6 | 3/6 | 2/4 | 4/5 | n/r | 0/2 | 22/50 (44.0%) |
| Refractory | 6/11 | n/r | 1/11 | 1/6 | 2/5 | n/r | 6/6 | 1/4 | 1/2 | 19/42 (45.2%) |
| Dysmorphism | 16/17 | 21/21 | 10/11 | 6/7 | 7/7 | 4/4 | n/r | 3/3 | 2/2 | 69/72 (95.8%) |
| Thin upper vermillion | 7/15 | 3/20 | n/r | 6/7 | 3/6 | 0/4 | n/r | 2/3 | 1/2 | 22/58 (37.9%) |
| Strabismus | 5/15 | 3/20 | 4/8 | 1/7 | 2/6 | 2/4 | n/r | 2/3 | 1/2 | 20/57 (35.1%) |
| Abnormality on brain MRI | 6/12 | 5/15 | 8/11 | 3/6 | 5/6 | 3/4 | 4/6 | 4/4 | 0/2 | 37/64 (57.8%) |
| Cardiac abnormality | 7/16 | 3/14 | 1/10 | 1/6 | 4/6 | 0/4 | n/r | 1/4 | 2/2 | 19/62 (30.6%) |