Table 3.
Overview and frequency of genetic diagnosis included in the present study and the diagnostic method used to reach the diagnosis.
| Gene name | Number of patients | Inheritance | Diagnostic test |
|---|---|---|---|
| SCN1A | 18 | AD | Panel |
| TSC1/TSC2 | 10 | AD | Panel/sanger sequencing |
| PCDH19 | 4 | XL | Panel |
| SCN2A | 4 | AD | Panel |
| SCN8A | 4 | AD | Panel |
| GABRB3 | 3 | AD | Panel |
| CACNA1A | 2 | AD | Panel |
| DEPDC5 | 2 | AD | Panel |
| IQSEC2 | 2 | XLD | WES |
| PIGA | 2 | AD | Panel |
| SLC6A1 | 2 | AD | Panel |
| STAMBP | 2 | AD | WES |
| UBE3A | 1 | AD | Panel |
| ADGRL1 | 1 | Epilepsy candidate gene | WES |
| ATP1A3 | 1 | AD | Panel |
| CDKL5 | 1 | XLD | Panel |
| CELSR1 | 1 | Epilepsy candidate gene | WES |
| CUL4B | 1 | XLR | WES |
| CWF19L1 | 1 | AR | WES |
| FOXG1 | 1 | AD | Panel |
| GABRB2 | 1 | AD | Panel |
| GABRD | 1 | AD | Panel |
| IRF2BPL | 1 | AD | WES |
| KCNH5 | 1 | Epilepsy candidate gene | WES |
| KCNMA1 | 1 | AD | WES |
| KCNQ2 | 1 | AD | Panel |
| KCNQ3 | 1 | AD | Panel |
| MED12 | 1 | AD | Panel |
| NEXMIF | 1 | XLD | WES |
| MECP2 | 1 | XL | Panel |
| NPRL3 | 1 | AD | Panel |
| PIGN | 1 | AR | Panel |
| PIGT | 1 | AR | Panel |
| PNPO | 1 | AR | Panel |
| POU3F3 | 1 | AD | WES |
| SCN1B | 1 | AD | Panel |
| SLC1A2 | 1 | AD | Panel |
| SLITRK2 | 1 | Epilepsy candidate gene | WES |
| STXBP1 | 1 | AD | Panel |
| SYNGAP1 | 1 | AD | Panel |
| TRA2B | 1 | Epilepsy candidate gene | WES |
AD, autosomal dominant; AR, autosomal recessive; WES, whole exome sequencing; XL, X-linked; XLD, X-linked dominant; XLR, X-linked recessive