title: Genetic Testing Requires NGS and Sanger Methodologies.
abstract: Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
authors.affiliation: Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
authors.forename: Lawrence J
authors.initials: LJ
authors.lastname: Jennings
authors.affiliation: Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
authors.forename: Dawn
authors.initials: D
authors.lastname: Kirschmann
keywords: NGS; SCN1A; Sanger