Sudden death in epilepsy: of mice and men.
نویسندگان
چکیده
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).
منابع مشابه
Challenges in the Treatment of Epilepsy
Epilepsy is one of the most important diseases of nervous system that involves 0.5-1% of the population. In spite of new developments in antiepileptic drugs, between 20-30% of epileptic patients can not be controlled and even those who are controlled with antiepileptic drugs suffer from their adverse events. Epileptic patients have different challenges in relation to the disease and its medicat...
متن کاملA Brief Overview of Epilepsy with Emphasis on Children
Epilepsy is a brain disorder in which a person has repeated seizures over time. A seizure is a sudden change in the electrical and chemical activity in the brain. A single seizure that does not happen again is NOT epilepsy. Most children with epilepsy live a normal life. Certain types of childhood epilepsy go away or improve with age, usually in the late teens or 20s. Nearly 80% of people with ...
متن کاملFunctional Neuroplasticity in the Nucleus Tractus Solitarius and Increased Risk of Sudden Death in Mice with Acquired Temporal Lobe Epilepsy
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in individuals with refractory acquired epilepsy. Cardiorespiratory failure is the most likely cause in most cases, and central autonomic dysfunction has been implicated as a contributing factor to SUDEP. Neurons of the nucleus tractus solitarius (NTS) in the brainstem vagal complex receive and integrate vagally mediated ...
متن کاملEditors' note: Underestimation of sudden deaths among patients with seizures and epilepsy.
OBJECTIVE To determine the definite and potential frequency of seizures and epilepsy as a cause of death (COD) and how often this goes unrecognized. METHODS Prospective determination of seizures or epilepsy and final COD for individuals aged 18-90 years with out-of-hospital sudden cardiac deaths (SCDs) from the population-based San Francisco POST SCD Study. We compared prospective seizure or ...
متن کاملAcute and chronic responses to the convulsant pilocarpine in DBA/2J and A/J mice.
Characterizing the responses of different mouse strains to experimentally-induced seizures can provide clues to the genes that are responsible for seizure susceptibility, and factors that contribute to epilepsy. This approach is optimal when sequenced mouse strains are available. Therefore, we compared two sequenced strains, DBA/2J (DBA) and A/J. These strains were compared using the chemoconvu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Journal of clinical investigation
دوره 123 4 شماره
صفحات -
تاریخ انتشار 2013