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

Stem Cell Res. 2017 Oct:24:12-15. doi: 10.1016/j.scr.2017.07.030. Epub 2017 Jul 29.

Abstract

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).

MeSH terms

  • Epilepsy, Temporal Lobe / genetics*
  • Epilepsy, Temporal Lobe / pathology
  • Genotype
  • Glioma / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Intracellular Signaling Peptides and Proteins
  • Leucine / metabolism*
  • Mutation
  • Proteins / genetics*
  • Proteins / metabolism

Substances

  • Intracellular Signaling Peptides and Proteins
  • LGI1 protein, human
  • Proteins
  • Leucine