Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation

Stem Cell Res. 2020 Dec:49:102080. doi: 10.1016/j.scr.2020.102080. Epub 2020 Nov 18.

Abstract

Mutations in KCNA2 gene, encoding for the voltage-gated K+ channel Kv1.2, has been reported to be associated with epilepsy disorders. This channel is mainly expressed in the central nervous system and plays an important role in neuronal excitability and neurotransmitter release. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of an eight-year-old girl with epileptic encephalopathy and electrical status epilepticus during sleep carrying a mutation (c.1214C > T, p.Pro405Leu) in KCNA2. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Child
  • Epilepsy* / genetics
  • Female
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kv1.2 Potassium Channel / genetics
  • Leukocytes, Mononuclear
  • Mutation
  • Sleep
  • Status Epilepticus* / genetics

Substances

  • KCNA2 protein, human
  • Kv1.2 Potassium Channel