Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference3 articles.
1. Allen NM, Weckhuysen S, Gorman K, King MD, Lerche H. Genetic potassium channel-associated epilepsies: Clinical review of the Kvfamily. Eur J Paediatr Neurol. 2020 Jan; 24:105-116.https://doi: 10.1016/j.ejpn.2019.12.002. Epub 2019 Dec 14. PMID: 31932120.
2. Developmental and epileptic encephalopathies: recognition and approaches to care;Raga;Epileptic Disord.,2021
3. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy;Weckhuysen;Ann. Neurol.,2012
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