Table 1.
Reference | Cohort of Patients | Percentage of IMDs among All Diagnoses | Diagnostic Method |
---|---|---|---|
[19] | 197 children with epilepsy, abnormal metabolic investigations was an exclusion criterion | 13% | ES |
[20] | 293 patients with variable epilepsy phenotypes | 21.5% | ES |
[13] | patients with variable epilepsy phenotypes | 38% | TruSight One panel, Illumina |
[21] | 180 patients with early-life epilepsy (onset ≤ 5 years) | 25% | Gene panel of 620 known epilepsy genes |
[17] | 38 patients with progressive myoclonic epilepsies | 62.5% | ES |
[22] | 150 adult and elderly patients with intellectual disability and epilepsy | 18% | TruSight One panel, Illumina/ES |
ES—exome sequencing.