'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.
'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.
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DOI：
10.1016/j.tips.2022.03.001
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发表时间：
2022-05
影响因子：
13.8
通讯作者：
Kiskinis, Evangelos
中科院分区：
文献类型：
--
作者：
Simkin, Dina;Ambrosi, Christina;Marshall, Kelly A.;Williams, Luis A.;Eisenberg, Jordyn;Gharib, Mennat;Dempsey, Graham T.;George, Alfred L., Jr.;McManus, Owen B.;Kiskinis, Evangelos
诱导多能干细胞（iPSC）和基因编辑技术彻底改变了体外疾病建模领域，使我们能够获得与中枢神经系统疾病相关的人类细胞。这些技术特别适合于研究具有强单基因病因的疾病。癫痫是儿童最常见的神经系统疾病之一，大约一半的遗传病例是由离子通道基因突变引起的。这些channelopathy相关的癫痫临床上是多样的，机械复杂，难以treat.here，我们审查的遗传联系癫痫，机会，和挑战的iPSC为基础的方法开发在体外模型的channelopathy相关疾病，有效的表型iPSC衍生的神经元的可用工具，并讨论潜在的治疗方法，这些毁灭性的疾病。
Induced pluripotent stem cell (iPSC) and gene editing technologies have revolutionized the field of in vitro disease modeling, granting us access to disease-pertinent human cells of the central nervous system. These technologies are particularly well-suited for studying diseases with strong monogenic etiologies. Epilepsy is one of the most common neurological disorders in children, with approximately half of all genetic cases caused by mutations in ion-channel genes. These channelopathy-associated epilepsies are clinically diverse, mechanistically complex, and hard to treat. Here, we review the genetic links to epilepsy, the opportunities, and challenges of iPSC-based approaches for developing in vitro models of channelopathy-associated disorders, the available tools for effective phenotyping of iPSC-derived neurons and discuss the potential therapeutic approaches for these devastating diseases.
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影响因子：
64.8
作者：
Beaulieu-Laroche L;Brown NJ;Hansen M;Toloza EHS;Sharma J;Williams ZM;Frosch MP;Cosgrove GR;Cash SS;Harnett MT
通讯作者：
Harnett MT
影响因子：
64.8
作者：
Birey F;Andersen J;Makinson CD;Islam S;Wei W;Huber N;Fan HC;Metzler KRC;Panagiotakos G;Thom N;O'Rourke NA;Steinmetz LM;Bernstein JA;Hallmayer J;Huguenard JR;Paşca SP
通讯作者：
Paşca SP
DOI：
10.1038/s41436-020-0923-1
发表时间：
2020-12
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Ganesan S;Galer PD;Helbig KL;McKeown SE;O'Brien M;Gonzalez AK;Felmeister AS;Khankhanian P;Ellis CA;Helbig I
通讯作者：
Helbig I
影响因子：
12.3
作者：
Ghosh R;Oak N;Plon SE
通讯作者：
Plon SE
影响因子：
4.5
作者：
Burrows CK;Banovich NE;Pavlovic BJ;Patterson K;Gallego Romero I;Pritchard JK;Gilad Y
通讯作者：
Gilad Y