title: Sudden death in epilepsy: of mice and men.
abstract: A 20-year-old man with intellectual disability and intractable multifocal epilepsy presented to a neurologist for further evaluation and management. His seizures began at 4 months, the night after his first DPT vaccine, and he continued to have frequent tonic-clonic seizures throughout his life. Several weeks after his visit, he was found facedown on the floor, dead, by his family. His autopsy was unremarkable, but genetic testing revealed a frame shift mutation in SCN1A, consistent with severe myoclonic epilepsy of infancy (Dravet syndrome).
authors.affiliation: Department of Neurology, New York University School of Medicine, New York, New York, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Friedman
authors.forename: Janice
authors.initials: J
authors.lastname: Chyou
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
mesh_terms: D000818:Animals; D001145:Arrhythmias, Cardiac / Q000401:mortality*; D004831:Epilepsies, Myoclonic / Q000401:mortality*; D006801:Humans