Nicole J Boczek Erin M Miller Dan Ye Vladislav V Nesterenko David J Tester Charles Antzelevitch Richard J Czosek Michael J Ackerman Stephanie M Ware
10.1016/j.hrthm.2014.09.051
Heart Rhythm
2015 Jan;12(1):211-9.
cacna1c genetics timothy syndrome whole exome sequencing window current
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25260352/
Calcium Channels, L-Type / genetics Heart Block / congenital Long QT Syndrome / diagnosis Long QT Syndrome / genetics Mutation / genetics Syndactyly / diagnosis Syndactyly / genetics
Calcium Channels, L-Type / genetics Heart Block / congenital Long QT Syndrome / diagnosis Long QT Syndrome / genetics Mutation / genetics Syndactyly / diagnosis Syndactyly / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Autistic Disorder Heart Block / diagnosis Heart Block / genetics Humans Infant Male CACNA1C protein, human Calcium Channels, L-Type Congenital heart block Timothy syndrome
PMC4907369
25260352
Novel Timothy syndrome mutation leading to increase in CACNA1C window current
2015