Table 3.
Clinical features in patients with and without a genetic diagnosis.
| Genetic Diagnosisa | Mean AAO (range) | Males (%) | EE (%) | Treatment Resistantb (%) | GDD/ID (%) | Autism (%) | MRI Abnormal (%) |
|---|---|---|---|---|---|---|---|
| Definite or Likely (n = 59) | 13.2 months (0.03–60) | 39 | 61 | 80 | 85 | 25 | 37 |
| No Diagnosis (n = 100) | 21.9 months (0.03–60) | 43 | 46 | 81 | 76 | 20 | 30 |
a
Individuals with variants of unknown significance or a possible genetic diagnosis are excluded (8).
b
Treatment resistant refers to failure to respond to 2 or more appropriate anti-seizure medications.
AAO, Age at onset; EE, Epileptic Encephalopathy; GDD/ID, Global Developmental Delay/Intellectual Disability.