Ontology highlight
ABSTRACT:
SUBMITTER: Dick IE
PROVIDER: S-EPMC4740114 | biostudies-other | 2016 Jan
REPOSITORIES: biostudies-other
Dick Ivy E IE Joshi-Mukherjee Rosy R Yang Wanjun W Yue David T DT
Nature communications 20160129
Timothy Syndrome (TS) is a multisystem disorder, prominently featuring cardiac action potential prolongation with paroxysms of life-threatening arrhythmias. The underlying defect is a single de novo missense mutation in CaV1.2 channels, either G406R or G402S. Notably, these mutations are often viewed as equivalent, as they produce comparable defects in voltage-dependent inactivation and cause similar manifestations in patients. Yet, their effects on calcium-dependent inactivation (CDI) have rema ...[more]