Exploring the cause of sudden unexplained death in epilepsy

March 25, 2013

Dravet syndrome (DS) is a form of infantile-onset, treatment-resistant epilepsy that is caused by a mutation in the gene encoding a voltage-gated sodium channel, SCN1A. DS patients have a 30-fold increased risk of dying from sudden unexplained death in epilepsy (SUDEP) compared to patients with other forms of pediatric-onset epilepsy.

In this issue of the Journal of Clinical Investigation, Franck Kalume and colleagues at the University of Washington characterized SUDEP in a mouse model of DS. Observation using video, electroencephalography, and electrocardiography revealed that a prolonged slowing of the heart beat preceded SUDEP in mice. Treatment with with drugs that reduce activity in the reduced the incidence of SUDEP, suggesting that mortality results from seizure-related parasympathetic hyperactivity.

In a companion Attending Physician, Orrin Devinsky and colleagues discuss how these results could relate to SUDEP in human DS patients.

Explore further: Expert calls for awareness, research of sudden death in patients with epilepsy

More information: Sudden unexpected death in a mouse model of Dravet Syndrome, J Clin Invest. doi:10.1172/JCI66220
Sudden death in epilepsy: Of mice and men, J Clin Invest. 2013;123(4):1415–1416. doi:10.1172/JCI67759

Related Stories

Recommended for you

Rac1 protein critical for lung development

October 20, 2016

A study by researchers from The Saban Research Institute of Children's Hospital Los Angeles reveals a promising therapeutic target for improving lung function in infants. Their study, now published online by the American ...

A vitamin could help treat Duchenne muscular dystrophy

October 19, 2016

Duchenne is the most common and severe form of muscular dystrophy. Because of this genetic disease, one out of every 3,500 children spends their 12th birthday in a wheelchair. This disorder progressively leads to general ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.