Skip to main content
. 2021 Aug 3;23(11):2122–2137. doi: 10.1038/s41436-021-01246-2

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.