Table 2.
Epilepsy and developmental endpoints
| Seizure outcomes | ||||
|---|---|---|---|---|
| Percentile | 25th percentile | 50th percentile | 75th percentile | 90th percentile |
| Seizure onset (n=72) | neonatal onset | 2 months | 7 months | 1.6 years |
| Focal-onset seizures (n=48) | neonatal onset | 2 months | 7.5 months | 2.3 years |
| Infantile/epileptic spasms (n=29) | 1 month | 4 months | 5 months | 6 months |
| Tonic seizures (n=20) | 0.8 months | 4 months | 1.5 years | 3.1 years |
| Bilateral tonic-clonic seizures (n=15) | 7.5 months | 3.9 years | 9.5 years | 12.2 years |
| PTV/del a (n=39) | neonatal onset | 2 months | 3 months | 1.7 years |
| Missense variants (n=30) | neonatal onset | 1 month | 6.3 months | 1.1 years |
|
| ||||
| Overall seizure remission b (n=38/61) | 6 months | 1.2 years | 4.0 years | 10.1 years |
| Focal-onset seizures (n=27) | 3 months | 7 months | 2.9 years | 6.7 years |
| Infantile/epileptic spasms (n=18) | 5 months | 8 months | 1.1 years | 3.5 years |
| Tonic seizures (n=12) | 4.8 months | 8 months | 3.6 years | 6.1 years |
| Bilateral tonic-clonic seizures (n=8) | 1.3 years | 3.6 years | 7.3 years | 8.6 years |
| PTV/del (n=26) | 6 months | 11 months | 4.0 years | 9.0 years |
| Missense variants (n=11) | 7 months | 2.6 years | 5.1 years | 10.2 years |
|
Developmental outcomes | ||||
| Milestone acquisition | ||||
| Head control (n=31) | 3 months | 6.3 months | 1.0 year | 3.0 years |
| Roll over (n=103) | 5 months | 7.6 months | 11 months | 1.2 years |
| Sit unassisted (n=84) | 10 months | 1.0 year | 1.4 years | 2.0 years |
| Grasp and hand control (n=60) | 7 months | 10 months | 1.0 year | 2.0 years |
| Walk assisted or unassisted (n=81) | 1.5 years | 2.4 years | 3.5 years | 5.3 years |
| Few words/sentences (n=22) | 1.6 years | 2.0 years | 3.3 years | 7.0 years |
|
Standardized assessments c | ||||
| GMFM-66-IS (n=45 individuals, 57 exams) | ||||
| 0–1 year (n=9 exams) | 19.1 | 25.8 | 27.3 | 29.2 |
| 1 year-2 years (n=15 exams) | 23.7 | 33.9 | 40.2 | 41.9 |
| 2–5 years (n=20 exams) | 25.8 | 35.8 | 46.1 | 61.6 |
| 5+ years (n=13 exams) | 54.9 | 58.9 | 61.2 | 66.6 |
| PDMS-2 (n=21 individuals) | ||||
| Grasping (n=23 exams) | 24.5 | 33.5 | 39.0 | 41.8 |
| Visual motor integration (n=23 exams) | 26.5 | 34.5 | 53.0 | 64.5 |
|
Classification scales | ||||
| GMFCS-ER (n=41) | Level I: n=5, Level II: n=16, Level III: n=4, Level IV: n=12, Level V: n=5 | |||
| MACS (n=9) | Level I: n=0, Level II: n=4, Level III: n=2, Level IV: n=2, Level V: n=1 | |||
| CFCS (n=23) | Level I: n=0, Level II: n=1, Level III: n=3, Level IV: n=5, Level V: n=14 | |||
a
PTV/del included splice sites, frameshifts, and whole and partial gene deletions.
b
Seizure remission was defined by at least 12 months of consecutive seizure freedom.
c
Abbreviations: Gross Motor Function Measure (GMFM-66-IS); Gross Motor Function Classification System Extended & Revised (GMFCS-ER); Peabody Developmental Motor Scales (PDMS-2); Manual Ability Classification System; (MACS), Communication Function Classification System (CFCS).