The spectrum of epilepsy-related Copy Number Variations (CNVs). The authors observe a correlation between the frequency of second hits and frequency of inherited primary variants. Many of the epilepsy-associated microdeletions are found in the middle of the spectrum. The 15q11.2 variants is one of the few variants with a significantly elevated frequency of Second Hits.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany