Showing the number of DNMs identified in cases and controls in previous exome sequencing studies, as well as the OMIM designation number, for genes with DNMs found in this study
| Gene | Cases | Controls | ID | Epilepsy | Associated disorder (OMIM designation and number) |
|---|---|---|---|---|---|
| SCN2A | 20 | 0 | Yes | Yes | Epileptic encephalopathy, MIM:613721, seizures, MIM: 607745 |
| SYNGAP1 | 12 (1) | 1 (1) | Yes | Yes | Mental retardation, MIM:612621 |
| SETD5 | 6 | 1 | Yes | No | Mental retardation, MIM:615761 |
| HECW2 | 5 | 0 | No | No | None |
| CDKL5 | 3 | 0 | Yes | Yes | Epileptic encephalopathy, MIM:300672 |
| KCNQ2 | 3 (1) | 0 | Yes | Yes | Epileptic encephalopathy, MIM:613720, Myokymia, MIM:121200 |
| ZMYND11 | 2 | 0 | Yes | No | Mental retardation, MIM:616083 |
| KIAA1244 | 1 | 1 | No | No | None |
| TBC1D4 | 1 (1) | 0 | No | No | None |
| KCNA1 | 1 | 0 | Yes | Yes | Episodic ataxia/myokymia syndrome, MIM:160120 |
| BAZ1A | 1 | 1 (1) | No | No | None |
| ERC2 | 1 (1) | 1 | No | No | None |
| GABRG2 | 1 | 0 | No | Yes | Epilepsy, MIM:611277, MIM:607681 |
| GRIN1 | 1 | 1 | Yes | Yes | Mental retardation, MIM:614254 |
| SMC1A | 1 | 0 | Yes | Yes | Cornelia de Lange syndrome, MIM:300590 |
The number of synonymous DNMs for each gene and category is noted in parenthesis. One DNM in each of these genes was found in this study, including four stopgains (SYNGAP1, SETD5, CDKL5, SMC1A), ten non-synonymous (SCN2A, HECW2, KCNQ2, ZMYND11, TBL1D4, KCNA1, BAZ1A, ERC2, GABRG2, GRIN1) and one synonymous (KIAA1244). Variants identified in the present study are not included in this table (listed in table 1)
ID, intellectual disability; DNM, de novo mutation.