Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation

Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific mutation, independent of genetic background, causes seizure activity we generated two pairs of isogenic human iPSC lines by CRISPR/Cas9 gene e...

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Bibliographic Details
Main Authors: Yunyao Xie, Nathan N. Ng, Olga S. Safrina, Carmen M. Ramos, Kevin C. Ess, Philip H. Schwartz, Martin A. Smith, Diane K. O'Dowd
Format: Article
Language:English
Published: Elsevier 2020-02-01
Series:Neurobiology of Disease
Subjects:
Isogenic
Induced pluripotent stem cells
Neurons
SCN1A
Genetic epilepsy with febrile seizure plus
Electrophysiology
Online Access:http://www.sciencedirect.com/science/article/pii/S096999611930302X

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http://www.sciencedirect.com/science/article/pii/S096999611930302X

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