Exploring the cause of sudden unexplained death in epilepsy

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.

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

add to favorites email to friend print save as pdf

Related Stories

Gene identified for sudden unexpected death in epilepsy

Apr 13, 2010

A mutation in a brain protein gene may trigger irregular heart beat and sudden death in people with epilepsy, according to new research in the April 14 issue of The Journal of Neuroscience. People with epilep ...

Heart link discovered in sudden epilepsy deaths

Nov 08, 2010

(PhysOrg.com) -- Sudden unexpected death in epilepsy (SUDEP) is the most common cause of epilepsy-related death and responsible for about 150 Australian deaths each year yet the underlying cause has remained a mystery.

Recommended for you

User comments

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.