More Severe Loss-of-Function Sodium Channel induced by Compound SCN5A R965C and R1309H Mutants lead to Complex Familial Arrhythmia Syndrome.
Yubi Lin, Jiading Qin, Yuhui Shen, Jiana Huang, Ting Zhao, Yanshun Ou, Zhe Yang, Huijie Wang, Feng Wang, ZhiLing Zhu, Geyang Xu, Yan Yan, Zhenyu Hu, Bin Jiang, Xiufang Lin
The paper identifies a compound SCN5A mutation R965C-R1309H in a family with arrhythmia syndrome, showing it causes more severe sodium channel dysfunction than either mutation alone.
bioRxiv · Aug 5, 2019 · PreprintGenetics