TABLE 1.
Demographic, diagnostic and epilepsy characteristics of patient cohort.
| Characteristic | Total (n = 28) | EGT (n = 8) | LGT (n = 20) |
|---|---|---|---|
| Gender, n (%) | |||
| Male | 11 (39) | 5 (63) | 12 (60) |
| Female | 17 (61) | 3 (37) | 8 (40) |
| Race, n (%) | |||
| White | 17 (61) | 5 (63) | 12 (60) |
| Hispanic | 2 (7) | 1 (12) | 1 (5) |
| Asian | 2 (7) | 1 (12) | 1 (5) |
| Black/African American | 4 (14) | 1 (12) | 3 (15) |
| Unknown | 3 (11) | 0 (0) | 3 (15) |
| Age at seizure onset (y) | |||
| Average | 1.5 | 1.3 | 1.8 |
| Median | 1.0 | 1.0 | 1.0 |
| Range | 0–7 | 0–4 | 0–7 |
| Drug‐resistant epilepsy, n (%) | 19 (68) | 5 (63) | 14 (70) |
| Time from epilepsy diagnosis to genetic diagnosis (y) | |||
| Average | 5.0 | 0.25 | 7.1 |
| Median | 3.0 | 0.50 | 5.0 |
| Range | 0–17 | 0–1 | 2–17 |
| Initial genetic test performed, n (%) | |||
| MEP | 15 (53) | 7 (87) | 8 (40) |
| CMA | 6 (21) | 0 (0) | 6 (30) |
| Karyotype | 3 (11) | 1 (13) | 2 (10) |
| Single‐gene panel | 1 (4) | 0 (0) | 1 (5) |
| Other | 3 (11) | 0 (0) | 3 (15) |
| Metabolic serum/urine testing, n (%) | 16 (57) | 0 (0) | 16 (80) |
| Invasive procedure (LP), n (%) | 5 (18) | 0 (0) | 5 (25) |
| Epilepsy‐related unscheduled hospitalizations | |||
| Average | 1.9 | 1.5 | 2.0 |
| Median | 1.5 | 1.0 | 1.5 |
| Range | 0–12 | 0–3 | 0–12 |
| Epilepsy‐related ED visits | |||
| Average | 4.3 | 3.1 | 4.8 |
| Median | 3.0 | 3.0 | 3.0 |
| Range | 0–20 | 1–6 | 0–20 |
| Clinical management changes due to MEP results, n (%) | |||
| Initiation of medication | 5 (18) | 1 (13) | 4 (20) |
| Discontinuation of medication | 1 (4) | 0 (0) | 1 (5) |
| Avoidance of certain medication classes | 1 (4) | 1 (13) | 0 (0) |
| Referral to a specialist | 3 (11) | 0 (0) | 3 (15) |
| None | 18 (64) | 6 (75) | 12 (60) |
Abbreviations: CMA, chromosomal microarray; ED, emergency room; EGT, early genetic testing; LGT, late genetic testing; LP, lumbar puncture; MEP, multigene epilepsy panel.