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. 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508

Table 1.

Percentage of diagnosed IMDs in various cohorts of epilepsy patients.

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.