Figure 1. Study design of the investigations by Dixon-Salazar and coworkers to identify genes implicated in autosomal recessive disorders. The current publication mainly deals with 10/118 families, in which a known clinical diagnosis was revised after exome sequencing.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
