Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1)
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2017 Oct;24:12-15 |
| PubMed | 29034879 |
| DOI | 10.1016/j.scr.2017.07.030 |