GS data inspection in CMH172, even though a- tant reference databases [Human Gene Mutation Database (HGMD) and OMIMI had not yet been updated with a BRATI disease associ- ation. The diagnosis was made clinically reportable by resequencing the patient and her parents. Had this diagnosis been obtained in

ed prospectively. In CMH172, with refractory epilepsy, rapid WGS disclosed a novel, homozygous frame-shifting insertion in a single candidate gene (BRATI). BRATI mutations were very recently reported in two unrelated Amish infants who suffered lethal, multifocal seizures (46). A molecular diagnosis w