'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies

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 the study of diseases with strong mono...

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Bibliographic Details
Published in:	Trends in pharmacological sciences (Regular ed.) Vol. 43; no. 5; pp. 392 - 405
Main Authors:	Simkin, Dina, Ambrosi, Christina, Marshall, Kelly A, Williams, Luis A, Eisenberg, Jordyn, Gharib, Mennat, Dempsey, Graham T, George, Jr, Alfred L, McManus, Owen B, Kiskinis, Evangelos
Format:	Journal Article
Language:	English
Published:	England 01-05-2022
Subjects:	Channelopathies Child Epilepsy - genetics Epilepsy - therapy Humans Induced Pluripotent Stem Cells Mutation Neurons developmental and epileptic encephalopathies (DEEs) induced pluripotent stem cells (iPSCs) SCN2A KCNQ2 ion channel genes SCN1A
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Summary:	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 the study of 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-2 Equal contribution
ISSN:	0165-6147 1873-3735
DOI:	10.1016/j.tips.2022.03.001