Table 4 Variant yield by age of onset and epilepsy syndrome
From: Incorporating epilepsy genetics into clinical practice: a 360°evaluation
Patients with | ||||||
|---|---|---|---|---|---|---|
Age at seizure onset | no variants | only benign variants | VUS | pathogenic variants | Total | Diagnostic yield |
0–1 m | 1 | 3 | 2 | 10 | 16 | 63% |
2–24 m | 14 | 10 | 3 | 7 | 34 | 21% |
IEE | 5 | 7 | 3 | 4 | 19 | 21% |
FS/TLE | 2 | 0 | 0 | 2 | 4 | 50% |
IS | 7 | 3 | 0 | 1 | 11 | a9% |
>2 y | 22 | 18 | 4 | 2 | 46 | 4% |
NFLE/SHE | 4 | 2 | 0 | 0 | 6 | 0% |
GGE | 4 | 3 | 2 | 0 | 9 | 0% |
EOABS | 0 | 4 | 0 | 0 | 4 | 0% |
ESES | 5 | 5 | 0 | 1 | 11 | 9% |
FFE | 4 | 2 | 1 | 1 | 8 | 13% |
DRE-FOC | 5 | 2 | 1 | 0 | 8 | 0% |
Grand total | 37 | 31 | 9 | 19 | 96 | 20% |
