Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1)


Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are difficult to obtain as a research tool. Human induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal cells in a dish, and can be a promising tool to model ADLTE. Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c.1418C>T, p.Ser473Leu). Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Tan GW, Kondo T, Murakami N, Imamura K, Enami T, Tsukita K, Shibukawa R, Funayama M, Matsumoto R, Ikeda A, Takahashi R, Inoue H
Journal Stem cell research
Publication Date 2017 Oct;24:12-15
PubMed 29034879
DOI 10.1016/j.scr.2017.07.030

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