Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function

Inwardly rectifying K(+) channel 4.1 (Kir4.1), encoded by KCNJ10, is a member of the inwardly rectifying potassium channel family. In the brain, Kir4.1 is predominant in astrocytic glia and accounts for the spatial buffering of K(+) released by neurons during action potential propagation. A number o...

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Detalles Bibliográficos
Autores principales: Zhang, Hongfeng, Zhu, Lin, Wang, Fengpeng, Wang, Ruimin, Hong, Yujuan, Chen, Yangqin, Zhu, Bin, Gao, Yue, Luo, Hong, Zhang, Xian, Sun, Hao, Zhou, Ying, Yao, Yi, Wang, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856220/
https://www.ncbi.nlm.nih.gov/pubmed/31781151
http://dx.doi.org/10.3389/fgene.2019.00912

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