Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.
复制标题

DOI:
10.1111/epi.13232
复制
发表时间:
2016-01
期刊:
影响因子:
5.6
通讯作者:
Cooper PN
Cooper PN
中科院分区:
医学1区
文献类型:
--
作者:
Goldman AM;Behr ER;Semsarian C;Bagnall RD;Sisodiya S;Cooper PN

文献摘要

参考文献

被引文献

相似文献

流行病学研究清楚地记录了癫痫猝死(SUDEP)的公共卫生负担。临床和实验研究已经揭示了动态心肺功能障碍,无论是在间歇期还是在癫痫猝死时。人类和模型系统的遗传分析促进了我们目前对SUDEP的分子理解。心脏性猝死和婴儿猝死综合征领域的进展为许多发现提供了信息。越来越明显的是,SUDEP基因组的复杂性与心源性猝死相似,并且缺乏分析有用的死后材料。由于许多挑战仍然存在,SUDEP研究,分子诊断和预防的未来进展取决于国际,合作和跨学科的对话,在人类和实验转化研究猝死。
Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due to epilepsy. Genetic analyses in humans and in model systems have facilitated our current molecular understanding of SUDEP. Many discoveries have been informed by progress in the field of sudden cardiac death and sudden infant death syndrome. It is becoming apparent that SUDEP genomic complexity parallels that of sudden cardiac death, and that there is a pauci1ty of analytically useful postmortem material. Because many challenges remain, future progress in SUDEP research, molecular diagnostics, and prevention rests in international, collaborative, and transdisciplinary dialogue in human and experimental translational research of sudden death.
DOI: 10.1038/ng.3014
发表时间: 2014-08
期刊: NATURE GENETICS
影响因子: 30.8
作者:
Arking, Dan E.;Pulit, Sara L.;Crotti, Lia;Van der Harst, Pim;Munroe, Patricia B.;Koopmann, Tamara T.;Sotoodehnia, Nona;Rossin, Elizabeth J.;Morley, Michael;Wang, Xinchen;Johnson, Andrew D.;Lundby, Alicia;Gudbjartsson, Daniel F.;Noseworthy, Peter A.;Eijgelsheim, Mark;Bradford, Yuki;Tarasov, Kirill V.;Dorr, Marcus;Miiller-Nurasyid, Martina;Lahtinen, Annukka M.;Nolte, Ilja M.;Smith, Albert Vernon;Bis, Joshua C.;Isaacs, Aaron;Newhouse, Stephen J.;Evans, Daniel S.;Post, Wendy S.;Waggott, Daryl;Lyytikainen, Leo-Pekka;Hicks, Andrew A.;Eisele, Lewin;Ellinghaus, David;Hayward, Caroline;Navarro, Pau;Ulivi, Sheila;Tanaka, Toshiko;Tester, David J.;Chatel, Stephanie;Gustafsson, Stefan;Kumari, Meena;Morris, Richard W.;Naluai, Asa T.;Padmanabhan, Sandosh;Kluttig, Alexander;Strohmer, Bernhard;Panayiotou, Andrie G.;Torres, Maria;Knoflach, Michael;Hubacek, Jaroslav A.;Slowikowski, Kamil;Raychaudhuri, Soumya;Kumar, Runjun D.;Harris, Tamara B.;Launer, Lenore J.;Shuldiner, Alan R.;Alonso, Alvaro;Bader, Joel S.;EhreT, Georg;Huang, Hailiang;Kao, W. H. Linda;Strait, James B.;Macfarlane, Peter W.;Brown, Morris;Caulfield, Mark J.;Samani, Nilesh J.;Kronenberg, Florian;Willeit, Johann;Smith, J. Gustav;Greiser, Karin H.;Schwabedissen, Henriette Meyer Zu;Werdan, Karl;Carella, Massimo;Zelante, Leopoldo;Heckbert, Susan R.;Psaty, Bruce M.;Rotter, Jerome I.;Kolcic, Ivana;Poagek, Ozren;Wright, Alan F.;Griffin, Maura;Daly, Mark J.;Arnar, David O.;Holm, Hilma;Thorsteinsdottir, Unnur;Denny, Joshua C.;Roden, Dan M.;Zuvich, Rebecca L.;Emilsson, Valur;Plump, Andrew S.;Larson, Martin G.;O'Donnell, Christopher J.;Yin, Xiaoyan;Bobboll, Marco;D'Adamo, Adamo P.;Iorio, Annamaria;Sinagra, Gianfranco;Carracedo, Angel;Cummings, Steven R.;Nalls, Michael A.;Jula, Antti;Kontula, Kimmo K.;Marjamaa, Annukka;Oikarinen, Lasse;Perola, Markus;Porthan, Kimmo;Erbe, Raimund;Hoffmann, Per;Jockel, Karl-Heinz;Kalsch, Hagen;Nothen, Markus M.;Den Hoed, Marcel;Loos, Ruth J. F.;Thelle, Dag S.;Gieger, Christian;Meitinger, Thomas;Perz, Siegfried;Peters, Annette;Pruchal, Hanna;Sinner, Moritz F.;Waldenberger, Melanie;De Boer, Rudolf A.;Franke, Lude;Van der Vleuten, Pieter A.;Beckmann, Britt Maria;Martens, Eimo;Bardail, Abdennasser;Hofman, Nynke;Wilde, Arthur A. M.;Behr, Elijah R.;Dalageorgou, Chrysoula;Giudicessi, John R.;Medeiros-Domingo, Argelia;Barc, Julien;Kyndt, Florence;Probst, Vincent;Ghidoni, Alice;Insolia, Roberto;Hamilton, Robert M.;Scherer, Stephen W.;Brandimarto, Jeffrey;Margulies, Kenneth;Moravec, Christine E.;Del Greco, Fabiola;Fuchsberger, Christian;O'Connell, Jeffrey R.;Lee, Wai K.;Watt, Graham C. M.;Campbell, Harry;Wild, Sarah H.;El Mokhtari, Nour E.;Frey, Norbert;Asselbergs, Folkert W.;Leach, Irene Mateo;Navis, Gerjan;Van den Berg, Maarten P.;Van Veldhuisen, Dirk J.;Kellis, Manolis;Krijthe, Bouwe P.;Franco, Oscar H.;Hofman, Albert;Kors, Jan A.;Uitterlinden, Andre G.;Witteman, Jacqueline C. M.;Kedenko, Lyudmyla;Lamina, Claudia;Oostra, Ben A.;Abecasis, Goncalo R.;Lakatta, Edward G.;Mulas, Antonella;Orru, Marco;Schlessinger, David;Uda, Manuela;Markus, Marcello R. P.;Volker, Uwe;Snieder, Harold;Spector, Timothy D.;Arnlov, Johan;Lind, Lars;Sundstrom, Johan;Syvanen, Ann-Christine;Kivimaki, Mika;Kahonen, Mika;Mononen, Nina;Raitakari, I. T.;Viikari, Jorma S.;Adamkova, Vera;Kiech, Stefan;Brion, Maria;Nicolaides, Andrew N.;Paulweber, Bernhard;Haerting, Johannes;Dominiczak, Anna F.;Nyberg, Fredrik;Whincup, Peter H.;Hingorani, Aroon D.;Schott, Jean-Jacques;Bezzina, Connie R.;Ingelsson, Erik;Ferrucci, Luigi;Gaspariniin, Paolo;Wilson, James F.;Rudan, Igor;Franke, Andre;Miihleisen, Thomas W.;Pramstaller, Peter P.;Lehtimaki, Terho J.;Paterson, Andrew D.;Parsa, Afshin;Liu, Yongmei;Van Duijn, Cornelia M.;Siscovick, David S.;Gudnason, Vilmundur;Jamshidi, Yalda;Salomaa, Veikko;Felix, Stephan B.;Sanna, Serena;Ritchie, Marylyn D.;Stricker, Bruno H.;Stefansson, Karl;Boyer, Laurie A.;Cappola, Thomas P.;Olsen, Jesper V.;Lage, Kasper;Schwartz, Peter J.;Kaab, Stefan;Chakravarti, Aravinda;Ackerman, Michael J.;Pfeufer, Arne;De Bakker, Paul I. W.;Newton-Cheh, Christopher
通讯作者: Newton-Cheh, Christopher
DOI: 10.1038/ng.623
发表时间: 2010-08
期刊: Nature genetics
影响因子: 30.8
作者:
通讯作者: --
DOI: 10.1371/journal.pgen.1002158
发表时间: 2011-06
期刊: PLoS genetics
影响因子: 4.5
作者:
Arking DE;Junttila MJ;Goyette P;Huertas-Vazquez A;Eijgelsheim M;Blom MT;Newton-Cheh C;Reinier K;Teodorescu C;Uy-Evanado A;Carter-Monroe N;Kaikkonen KS;Kortelainen ML;Boucher G;Lagacé C;Moes A;Zhao X;Kolodgie F;Rivadeneira F;Hofman A;Witteman JC;Uitterlinden AG;Marsman RF;Pazoki R;Bardai A;Koster RW;Dehghan A;Hwang SJ;Bhatnagar P;Post W;Hilton G;Prineas RJ;Li M;Köttgen A;Ehret G;Boerwinkle E;Coresh J;Kao WH;Psaty BM;Tomaselli GF;Sotoodehnia N;Siscovick DS;Burke GL;Marbán E;Spooner PM;Cupples LA;Jui J;Gunson K;Kesäniemi YA;Wilde AA;Tardif JC;O'Donnell CJ;Bezzina CR;Virmani R;Stricker BH;Tan HL;Albert CM;Chakravarti A;Rioux JD;Huikuri HV;Chugh SS
通讯作者: Chugh SS
DOI: 10.1161/circulationaha.109.879643
发表时间: 2009-10-27
期刊: CIRCULATION
影响因子: 37.8
作者:
Crotti, Lia;Monti, Maria Cristina;George, Alfred L., Jr.
通讯作者: George, Alfred L., Jr.
DOI: 10.1371/journal.pone.0077843
发表时间: 2013
期刊: PloS one
影响因子: 3.7
作者:
Auerbach DS;Jones J;Clawson BC;Offord J;Lenk GM;Ogiwara I;Yamakawa K;Meisler MH;Parent JM;Isom LL
通讯作者: Isom LL