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 indu...

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Bibliographic Details
Published in:	Stem cell research Vol. 24; no. C; pp. 12 - 15
Main Authors:	Tan, Ghee Wan, Kondo, Takayuki, Murakami, Nagahisa, Imamura, Keiko, Enami, Takako, Tsukita, Kayoko, Shibukawa, Ran, Funayama, Misato, Matsumoto, Riki, Ikeda, Akio, Takahashi, Ryosuke, Inoue, Haruhisa
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-10-2017 Elsevier
Subjects:	Epilepsy, Temporal Lobe - genetics Epilepsy, Temporal Lobe - pathology Genotype Glioma - genetics Humans Induced Pluripotent Stem Cells - metabolism Leucine - metabolism Mutation Proteins - genetics Proteins - metabolism
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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).
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2017.07.030