Table 1.
Clinical characteristics of study participants undergoing genetic testing. n, number; VUS, variant of unknown significance
| Patients consented to genetic testing | Genetically solved cases (including those with suspicious VUS) | Genetically unsolved cases | p-value (solved vs unsolved) | |
|---|---|---|---|---|
| n = 188 | n = 101 | n = 87 | - | |
| Male | 101/188 (55%) | 48/101 (47%) | 42/87 (48%) | - |
| Female | 86/188 (45%) | 54/101 (53%) | 44/87 (52%) | - |
| Epilepsy diagnosis | 188/188 (100%) | 101/101 (100%) | 87/87 (100%) | - |
| Developmental delay or cognitive impairment |
140/188 (74%) Degree: none = 48 mild = 40 moderate = 24 severe = 25 profound = 42 Unable to classify = 9 |
90/101 (89%) Degree: none = 11 mild = 22 moderate = 13 severe = 16 profound = 30 Present but unable to classify = 9 |
49/87 (56%) Degree: none = 38 mild = 18 moderate = 9 severe = 9 profound = 12 Present but unable to classify = 1 |
p < 0.001 |
| Abnormal brain MRI | 61/188 (32%) | 38/101 (37%) | 23/87 (26%) | p = 0.298 |
| History of febrile seizures | 99/188 (51%) | 74/101 (72%) | 31/87 (35%) | p = 0.002 |
| History of status epilepticus | 97/188 (51%) | 55/101 (54%) | 17/87 (19%) | p < 0.001 |
| Treatment resistant epilepsy | 98/188 (51%) | 44/101 (43%) | 41/87 (47%) | p = 0.787 |
| Median age at onset of seizures | 12 months (range: 1st day of life to 8th year of life) | 6 months (range: 1st day of life to 8th year of life) | 24 months (range: 1st day of life to 8th year of life) | p < 0.001 |