Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation

Developmental and epileptic encephalopathies (DEE) can be caused by mutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2. This ion channel belongs to the delayed rectifier class of potassium channels and plays a role during the repolarization phase of an action potential. In th...

Full description

Bibliographic Details
Main Authors: Niklas Schwarz, Betül Uysal, Filip Rosa, Heidi Löffler, Ulrike A. Mau-Holzmann, Stefan Liebau, Holger Lerche
Format: Article
Language:English
Published: Elsevier 2019-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119300753