Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is vital in regulating neuronal membrane potential a...

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Bibliographic Details
Main Authors: Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301549

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http://www.sciencedirect.com/science/article/pii/S1873506120301549

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