Sudden death in epilepsy: of mice and men.

نویسندگان

  • Daniel Friedman
  • Janice Chyou
  • Orrin Devinsky
چکیده

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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عنوان ژورنال:
  • The Journal of clinical investigation

دوره 123 4  شماره 

صفحات  -

تاریخ انتشار 2013