结节性硬化症相关癫痫的临床特征及治疗进展

被引：6

作者：

杨坤琨

蒋莉

机构：

[1] 重庆医科大学附属儿童医院儿童发育疾病研究教育部重点实验室儿童发育重大疾病国家国际科技合作基地儿科学重庆市重点实验室

来源：

儿科药学杂志 | 2017年 / 23卷 / 04期

关键词：

D O I：

10.13407/j.cnki.jpp.1672-108X.2017.04.019

中图分类号：

R725.9 [小儿全身性疾病]; R742.1 [癫痫];

学科分类号：

100201 [内科学]; 100204 [神经病学];

摘要：

<正>结节性硬化症（tuberous sclerosis complex,TSC）是一种常染色体显性遗传的神经皮肤综合征,致病基因TSC1、TSC2分别位于常染色体9q34、16p13.3的抑癌基因[1-2]。TSC1、TSC2基因突变引起哺乳动物雷帕霉素靶蛋白（mTOR）信号通路异常激活,可在脑、皮肤、肾脏、心脏、肝脏、肺等多器官形成良性错构瘤。TSC人群患病率为1/6 000,约70%患者为散

引用

页码：58 / 61

页数：4

共 24 条

[1]

Everolimus Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex [J].

Krueger, Darcy A. ;

Wilfong, Angus A. ;

Holland-Bouley, Katherine ;

Anderson, Anne E. ;

Agricola, Karen ;

Tudor, Cindy ;

Mays, Maxwell ;

Lopez, Christina M. ;

Kim, Mi-Ok ;

Franz, David Neal .

ANNALS OF NEUROLOGY, 2013, 74 (05) :679-687

[2]

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference [J].

Krueger, Darcy A. ;

Northrup, Hope ;

Krueger, Darcy A. ;

Roberds, Steven ;

Smith, Katie ;

Sampson, Julian ;

Korf, Bruce ;

Kwiatkowski, David J. ;

Mowat, David ;

Nellist, Mark ;

Northrup, Hope ;

Povey, Sue ;

de Vries, Petrus ;

Byars, Anna ;

Dunn, David ;

Ess, Kevin ;

Hook, Dena ;

Jansen, Anna ;

King, Bryan ;

Sahin, Mustafa ;

Whittemore, Vicky ;

Thiele, Elizabeth ;

Bebin, E. Martina ;

Chugani, Harry T. ;

Crino, Peter ;

Curatolo, Paolo ;

Holmes, Greg ;

Nabbout, Rima ;

O'Callaghan, Finbar ;

Wheless, James ;

Wu, Joyce ;

Darling, Thomas N. ;

Cowen, Edward W. ;

Gosnell, Elizabeth ;

Hebert, Adelaide ;

Mlynarczyk, Greg ;

Soltani, Keyomaurs ;

Teng, Joyce ;

Wataya-Kaneda, Mari ;

Witman, Patricia M. ;

Kingswood, Chris ;

Bissler, John ;

Budde, Klemens ;

Hulbert, John ;

Guay-Woodford, Lisa ;

Sampson, Julian ;

Sauter, Matthias ;

Zonneberg, Bernard ;

Jozwiak, Sergiusz .

PEDIATRIC NEUROLOGY, 2013, 49 (04) :255-265

[3]

Mechanism-Based Treatment in Tuberous Sclerosis Complex [J].

Juelich, Kristina ;

Sahin, Mustafa .

PEDIATRIC NEUROLOGY, 2014, 50 (04) :290-296

[4]

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial [J].

Bissler, John J. ;

Kingswood, J. Christopher ;

Radzikowska, Elzbieta ;

Zonnenberg, Bernard A. ;

Frost, Michael ;

Belousova, Elena ;

Sauter, Matthias ;

Nonomura, Norio ;

Brakemeier, Susanne ;

de Vries, Petrus J. ;

Whittemore, Vicky H. ;

Chen, David ;

Sahmoud, Tarek ;

Shah, Gaurav ;

Lincy, Jeremie ;

Lebwohl, David ;

Budde, Klemens .

LANCET, 2013, 381 (9869) :817-824

[5]

Vigabatrin for partial-onset seizure treatment in patients with tuberous sclerosis complex [J].

Friedman, Daniel ;

Bogner, Miles ;

Parker-Menzer, Kimberly ;

Devinsky, Orrin .

EPILEPSY & BEHAVIOR, 2013, 27 (01) :118-120

[6]

Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations [J].

Curatolo, Paolo ;

Jozwiak, Sergiusz ;

Nabbout, Rima .

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2012, 16 (06) :582-586

[7]

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre; randomised; placebo-controlled phase 3 trial.[J].David Neal Franz;Elena Belousova;Steven Sparagana;E Martina Bebin;Michael Frost;Rachel Kuperman;Olaf Witt;Michael H Kohrman;J Robert Flamini;Joyce Y Wu;Paolo Curatolo;Petrus J de Vries;Vicky H Whittemore;Elizabeth A Thiele;James P Ford;Gaurav Shah;Helene Cauwel;David Lebwohl;Tarek Sahmoud;Sergiusz Jozwiak.

[8]

Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis [J].

Cusmai, Raffaella ;

Moavero, Romina ;

Bombardieri, Roberta ;

Vigevano, Federico ;

Curatolo, Paolo .

EPILEPSY & BEHAVIOR, 2011, 22 (04) :735-739

[9]

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex [J].

Jozwiak, Sergiusz ;

Kotulska, Katarzyna ;

Domanska-Pakiela, Dorota ;

Lojszczyk, Barbara ;

Syczewska, Malgorzata ;

Chmielewski, Dariusz ;

Dunin-Wasowicz, Dorota ;

Kmiec, Tomasz ;

Szymkiewicz-Dangel, Joanna ;

Kornacka, Maria ;

Kawalec, Wanda ;

Kuczynski, Dariusz ;

Borkowska, Julita ;

Tomaszek, Katarzyna ;

Jurkiewicz, Elzbieta ;

Respondek-Liberska, Maria .

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2011, 15 (05) :424-431

[10]

Neuronal and glia abnormalities in Tsc1 -deficient forebrain and partial rescue by rapamycin.[J].Robert P. Carson;Dominic L. Van Nielen;Peggy A. Winzenburger;Kevin C. Ess.Neurobiology of Disease.2011, 1

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