Study

Andersen-Tawil Syndrome: Genotype-phenotype correlation and longitudinal study

Study ID Alternative Stable ID Type
phs001289 Longitudinal

Study Description

Andersen-Tawil Syndrome (ATS) is a rare, genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and developmental abnormalities. Disease symptoms can vary, the cause of some ATS cases remains unknown, and no specific treatment has been identified. The purpose of this multi-site study is to better characterize ATS, establish whether symptoms change over time, and determine if symptoms are related to a mutation in the KCNJ2 gene.

Archive Link Archive Accession
dbGaP phs001289

Who archives the data?

There are no publications available