Friedman, Daniel; Chyou, Janice; Devinsky, Orrin
"Sudden death in epilepsy: of mice and men"
Journal of clinical investigation 2013 Apr; 123(4):1415-1416
- 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).
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