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Article

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

Stem cell research - 1 Dec 2020

Gong Pan, Jiao Xianru, Zhang Yuehua, Yang Zhixian

Abstract excerpt

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...

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Identifiers

PMID: 33232902
DOI: 10.1016/j.scr.2020.102080

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation.PMID 33232902Read ↗

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Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation.Semantic proximity Read ↗

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