Table 4.
Outcome at last follow-up and its association with underlying genetic abnormality and medication changes following the genetic diagnosis
| Outcome at last follow-up (compared with before genetic diagnosis), n (%) | Successful PM treatment tried and successful*, n (%) | Treatment change prompted by the genetic diagnosis, but not directly related to known pathophysiological mechanisms, successful*, n (%) | Genetic abnormality, n (%) | ACMG classification >3,23 when applicable, n (%) |
| A.Improved, 98 (34) | 7 (70) | 16 (64) | 85 SNV (87%) 6 CNV (6%) 6 CI (6%) one repeat expansion (1%) |
56 (84%) |
| B.Stable, 177 (60) | 3 (30) | 8 (32) | 147 SNV (84%) 10 CNV (6%) 1 SNV+CNV (1%) 15 CI (9%) two repeat expansion (1%) |
121 (88%) |
| C.Worse, 18 (6) | 0 (0) | 1 (4) | 14 SNV (78%) 1 CNV (6%) 1 SNV+CNV (6%) two repeat expansion (11%) |
7 (64%) |
*Successful treatment was defined as reduction >50% in seizure frequency.
ACMG, American College of Medical Genetics and Genomics; CI, chromosomal imbalance; CNV, copy number variant; PM, precision medicine; SNV, single-nucleotide variant.