Ontology highlight
ABSTRACT:
SUBMITTER: Tang X
PROVIDER: S-EPMC2940129 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Tang Xiaofang X Hang Darwin D Sand Andrea A Kofuji Paulo P
Biochemical and biophysical research communications 20100803 4
SeSAME syndrome is a complex disease characterized by seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance. Mutations in the inwardly rectifying potassium channel Kir4.1 (KCNJ10 gene) have been linked to this condition. Kir4.1 channels are weakly rectifying channels expressed in glia, kidney, cochlea and possibly other tissues. We determined the electrophysiological properties of SeSAME mutant channels after expression in transfected mammalian cells. We found th ...[more]