Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions

Sudden unexpected deaths in epilepsy (SUDEP) occur at an alarming higher rate in patients with Dravet syndrome (DS) than in patients with most other forms of epilepsy. DS is a severe infantile-onset epilepsy caused by a heterozygote loss-of-function mutation in SCN1A, which encodes the voltage-gated-sodium channel Nay 1.1. The mechanisms leading to SUDEP in DS or other epilepsies are not completely understood. Understanding the pathophysiological mechanisms of SUDEP, common to most epilepsies and those specific to DS, may pave the way toward the discovery of effective preventive strategies for these epilepsy-related tragic events. (C) 2013 Elsevier B.V. All rights reserved.