title: Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions.
abstract: 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 NaV 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.
authors.affiliation: Departments of Neurological Surgery and Pharmacology, University of Washington, Seattle, WA 98195, United States; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, United States. Electronic address: fkalume@uw.edu.
authors.forename: Franck
authors.initials: F
authors.lastname: Kalume
mesh_terms: D002318:Cardiovascular Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D003645:Death, Sudden / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D006801:Humans; D015656:Respiratory Mechanics / Q000502:physiology*; D012307:Risk Factors
keywords: Epilepsy; Respiration; SUDEP; Sodium channel