CNV analysis is LKS/CSWS. The authors identify 5 bona fide de novo CNVs in 61 patients, a frequency that is comparable to studies in other neurodevelopmental disorders. Many of the other variants identified in this study probably represent benign variants.
Ingo Helbig
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany