| Literature DB >> 23524959 |
Daniel Friedman1, Janice Chyou, Orrin Devinsky.
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).Entities:
Mesh:
Year: 2013 PMID: 23524959 PMCID: PMC3613934 DOI: 10.1172/JCI67759
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808