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Sudden death in epilepsy: of mice and men.
- 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).
- Subjects :
- Animals
Humans
Arrhythmias, Cardiac mortality
Epilepsies, Myoclonic mortality
Subjects
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