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|