SCN1B β mutations that affect their association with Kv4.3 underlie early repolarization syndrome.

CONCLUSION: The S248R and R250T mutations of SCN1Bβ gene caused gain-of-function of Ito by associated with Kv4.3, which maybe underlie the ERS phenotype of the probands. PMID: 30160358 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30160358?dopt=Abstract

Source: J Cell Mol Med - August 30, 2018 Category: Molecular Biology Authors: Yao H, Fan J, Cheng YJ, Chen XM, Ji CC, Liu LJ, Zheng ZH, Wu SH Tags: J Cell Mol Med Source Type: research