Table 2.
Summary of main phenotypic features in this study cohort and in literature.
| This study | Literature | This study | This study | |
|---|---|---|---|---|
| Variant classification (ACMG/AMP) | (Likely) pathogenic | (Likely) pathogenic | Uncertain significance | Uncertain significance |
| Variant zygosity | Heterozygous | Heterozygous | Heterozygous | Biallelic |
| Sex (male) | 17/28 (61%) | 8/11 (73%) | 3/4 (75%) | 4/4 (100%) |
| Seizure | 20/28 (71%) | 10/10 (100%) | 4/4 (100%) | 4/4 (100%) |
| Seizure type at onset (generalized) | 16/20 (80%) | 8/9 (89%) | 1/1 (100%) | 2/3 (66%) |
| Response to treatment (yes/partly) | 15/19 (79%) | 3/7 (43%) | 1/3 (33%) | 3/4 (75%) |
| Developmental delay | 26/28 (93%) | 11/11 (100%) | 4/4 (100%) | 4/4 (100%) |
| Motor development | 25/28 (89%) | 7/9 (78%) | 3/4 (75%) | 4/4 (100%) |
| Language development | 26/28 (93%) | 11/11 (100%) | 3/4 (75%) | 4/4 (100%) |
| Intellectual disability | 21/25 (84%) | 11/11 (100%) | 3/3 (100%) | 4/4 (100%) |
| Autism/autistic behavior | 18/28 (64%) | 7/11 (64%) | 3/4 (75%) | 3/4 (75%) |
| Other behavioral issues | 15/27 (56%) | 3/7 (43%) | 4/4 (100%) | 4/4 (100%) |
| Sleep disturbance | 6/25 (24%) | N/A | 2/4 (50%) | 2/4 (50%) |
As information on the different features was not always available for each individual, the denominator of the frequencies differs between the different clinical characteristics.
ACMG/AMP American College of Medical Genetics and Genomics/Association for Molecular Pathology.