Sudden death in epilepsy: of mice and men.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23524959.
- Also identified by DOI 10.1172/JCI67759 and PMC identifier 3613934.
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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).
Medical subject headings
- Arrhythmias, Cardiac
- Epilepsies, Myoclonic