Abstract
Human induced pluripotent cells in personalized treatment of monogenic epilepsies
Highlights
Epilepsy is one of the most common neurological disorders[1], with a prevalence of 4-8 per 1000 and a lifetime risk of 3%[2]
Patient-specific in vitro models, such as neurons differentiated from human-induced pluripotent stem cells with a given pathogenic variant can provide a tool for understanding the function of the gene variant and serve as drug screening platforms for targeted therapy of the patients
We focus on the application of iPSC-based functional studies and drug screening possibilities in monogenic epilepsies
Summary
Epilepsy is one of the most common neurological disorders[1], with a prevalence of 4-8 per 1000 and a lifetime risk of 3%[2]. Patient-specific in vitro models, such as neurons differentiated from human-induced pluripotent stem cells (hiPSCs) with a given pathogenic variant can provide a tool for understanding the function of the gene variant and serve as drug screening platforms for targeted therapy of the patients. To apply stratified treatment options for individual patients, it is of great advantage to determine the functional effect of the variant and potentially test drug efficacy in patient-specific systems.
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