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

被引：46

作者：

Kalume, Franck ^{[1
,2
,3
]}

机构：

[1] Univ Washington, Dept Neurol Surg, Seattle, WA 98195 USA

[2] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA

[3] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA

来源：

RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY | 2013年 / 189卷 / 02期

基金：

美国国家卫生研究院;

关键词：

SUDEP; Epilepsy; Respiration; Sodium channel; SEVERE MYOCLONIC EPILEPSY; MOUSE MODEL; RISK-FACTORS; CENTRAL APNEA; SUDEP; SEIZURES; ADENOSINE; IDENTIFICATION; INTERNEURONS; DEFINITIONS;

D O I：

10.1016/j.resp.2013.06.026

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

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.

引用

收藏

页码：324 / 328

页数：5

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