Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy.
Sanghoon LeeBo Ram KimYoung Ok KimPublished in: Science progress (2022)
The rate of rare CNVs in patients with genetic DEE was 16.4% in total, which was higher in seizures occurring below the infantile period or after the diagnosis of developmental delay, in PGE, and in the presence of facial dysmorphism or cardiovascular anomalies.