RORB in generalized epilepsy with absences – going retinoic

Retinoic receptor. A few years ago, when exome sequencing was still in its infancy, our group in Kiel identified a small de novo in frame deletion in a gene that we didn’t know how to interpret. In frame deletions that do not disturb the reading frame, but simply take one or several amino acids out, are usually less suspicious and are sometimes even filtered out by the algorithms that we and others typically use. We dismissed this finding for several years. However, a year ago, the plot thickened when other groups mentioned that they had found the same gene in their patients, including a family with six affected individuals. In a recent publication, we describe the improbable story of RORB, the latest gene for generalized epilepsies with prominent photosensitivity and absence seizures. Continue reading