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J Clin Invest. 2013 Apr;123(4):1415-6. doi: 10.1172/JCI67759. Epub 2013 Mar 25.

Sudden death in epilepsy: of mice and men.

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  • 1Department of Neurology, New York University School of Medicine, New York, New York, USA.


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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