Estimating the number of genes found to be mutated at least twice in patients in epileptic encephalopathies assuming 400 risk genes with a frequency of 0.2% each. In more than 80% of simulations, 5 or more genes will be identified in a cohort of 100 trios.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
