Mortality in Dravet syndrome

被引：230

作者：

Cooper, Monica S. ^{[1
,2
]}

Mcintosh, Anne ^{[4
,5
]}

Crompton, Douglas E. ^{[3
,4
,6
]}

McMahon, Jacinta M. ^{[4
]}

Schneider, Amy ^{[4
]}

Farrell, Kevin ^{[7
]}

Ganesan, Vijeya ^{[8
]}

Gill, Deepak ^{[9
]}

Kivity, Sara ^{[10
]}

Lerman-Sagie, Tally ^{[11
]}

McLellan, Ailsa ^{[12
]}

Pelekanos, James

Ramesh, Venkateswaran ^{[13
]}

Sadleir, Lynette ^{[14
,15
]}

Wirrell, Elaine ^{[16
]}

Scheffer, Ingrid E. ^{[2
,4
,17
]}

机构：

[1] Royal Childrens Hosp, Dept Dev Med, Melbourne, Vic, Australia

[2] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[3] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[4] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia

[5] Univ Melbourne, Royal Melbourne Hosp, Melbourne Brain Ctr, Melbourne, Vic, Australia

[6] Northern Hlth, Dept Neurol, Melbourne, Vic, Australia

[7] Univ British Columbia, Child & Family Res Inst, Dept Paediat, Div Neurol, Vancouver, BC, Canada

[8] Great Ormond St Hosp & Inst Child Hlth, Dept Neurol, London, England

[9] Childrens Hosp, TY Nelson Dept Neurol, Westmead, NSW, Australia

[10] Inst Pediat Neurol, Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel

[11] Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Pediat Neurol Unit, Holon, Israel

[12] Royal Hosp Sick Children, Dept Paediat Neurosci, Edinburgh, Midlothian, Scotland

[13] Newcastle Gen Hosp, Dept Paediat Neurol, Newcastle Upon Tyne, Tyne & Wear, England

[14] Wellington Childrens Hosp, Dept Paediat, Wellington, New Zealand

[15] Univ Otago, Wellington, New Zealand

[16] Mayo Clin, Div Child & Adolescent Neurol & Epilepsy, Rochester, MN USA

[17] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia

来源：

EPILEPSY RESEARCH | 2016年 / 128卷

关键词：

Dravet syndrome; Epilepsy; Mortality; Sudden unexpected death in epilepsy; SUDDEN UNEXPECTED DEATH; EPILEPSY; MECHANISMS; MOUSE;

D O I：

10.1016/j.eplepsyres.2016.10.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited, unrelated patients with DS; 87 had SCN1A mutations. Living cases had a median follow-up of 17 years. Seventeen patients died, at a median age of seven years (inter-quartile range 3-11 years) with causes of death: 10 SUDEP, four status epilepticus, two drowning and one asphyxia. The SUDEP classification included three Definite, one Definite Plus and six Probable. The Dravet-specific mortality rate/1000-person-years was 15.84 (98% CI 9.01-27.85). The Dravet-specific SUDEP rate was 9.32/1000-person-years (98% CI 4.46-19.45). The Dravet-specific SUDEP rate is the only documented syndrome-specific SUDEP rate. SUDEP in DS occurs mainly in childhood. It is also the highest SUDEP rate, considerably higher than the recent 5.1 SUDEP rate/1000-person-years for adults with refractory epilepsy. (C) 2016 Elsevier B.V. All rights reserved.

引用

页码：43 / 47

页数：5

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