Table 1.
Demographic and seizure parameters by genotype.
| All | 1-kb deletion | ||
|---|---|---|---|
| Homozygous | Non-homozygousa | ||
| Age at enrolment, n | 20 | 10 | 10 |
| Median (years) | 10.7 | 12.3 | 10.7 |
| Quartiles [1st;3rd] | [7.8;15.6] | [8.2;16.0] | [8.1;12.9] |
| Range [min;max] | [6.8;20.7] | [6.8;16.6] | [6.8;20.7] |
| Sex, n | 20 | 10 | 10 |
| Females | 10 | 6 | 4 |
| Seizure, n | 14 | 8 | 6 |
| Age at onset | |||
| Median (years) | 10.0 | 8.0 | 12.0 |
| Quartiles [1st;3rd] | [6.3;13.0] | [6.0;11.5] | [8.8;13.0] |
| Range [min;max] | [5;16] | [6;13.5] | [5;16] |
| Semiologyb, n | |||
| Tonic-clonic | 11 | 6 | 5 |
| Nonmotor | 7 | 5 | 2 |
| Focal motor | 1 | 1 | 0 |
| Myoclonic | 1 | 0 | 1 |
| Tonic | 1 | 0 | 1 |
| Controlledc, n | |||
| Yes | 5 | 3 | 2 |
| Nod | 8 | 5 | 3 |
| UBDRS sub-domain score | |||
| Median | 5.5 | 8.0 | 2.5 |
| Quartiles [1st;3rd] | [0.0;9.0] | [0.5;9.0] | [0.0;8.1] |
| Range [min;max] | [0.0;15.0] | [0.0;15.0] | [0.0;10.0] |
| Epileptiform discharges, n | |||
| Present | 15 | 9 | 6 |
| Not present | 3 | 1 | 2 |
a
Non-homozygous: include 1-kb deletion compound heterozygous and other genotypes.
b
A study participant may have more than one seizure type.
c
Defined as no seizure observed within the year prior to the study visit.
d
Seizure control was as yet undefined in one compound heterozygous participant (as it was newly onset) and was not included in count.