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Sudden death in epilepsy: of mice and men.

Authors :
Friedman D
Chyou J
Devinsky O
Source :
The Journal of clinical investigation [J Clin Invest] 2013 Apr; Vol. 123 (4), pp. 1415-6. Date of Electronic Publication: 2013 Mar 25.
Publication Year :
2013

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).

Details

Language :
English
ISSN :
1558-8238
Volume :
123
Issue :
4
Database :
MEDLINE
Journal :
The Journal of clinical investigation
Publication Type :
Academic Journal
Accession number :
23524959
Full Text :
https://doi.org/10.1172/JCI67759