Article
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jun 2016
Zheng Jinfan, Liang Zonglai, Hou Ying, Liu Fuchen, Hu Yuanyuan, Lin Pengfei, Yan Chuanzhu
Abstract excerpt
BACKGROUND AND OBJECTIVE: Mutations in KCNJ18, which encodes the inwardly rectifying potassium channel Kir2.6, have rarely been reported in hypokalemic periodic paralysis. We describe the clinical phenotype of a novel KCNJ18 gene mutation and perform functional characterization of this mutant Kir2.6. METHODS: A long-term exercise test (ET) was conducted based on the McManis method. Whole-cell currents were...
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