Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel CACNA1C Linked to Autosomal Dominant Long QT Syndrome

摘要

BackgroundLong QT syndrome (LQTS) is the most common cardiac channelopathy with 15 elucidated LQTS-susceptibility genes. Approximately 20% of LQTS cases remain genetically elusive.