Novel Timothy Syndrome Mutation Leading to Increase in CACNA1C Window Current

Eitemau Tebyg

• A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca(V)1.2 Channel Window Current, and Arrhythmogenesis
  gan: Hennessey, Jessica A., et al.
  Cyhoeddwyd: (2014)
• Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current
  gan: Landstrom, Andrew P., et al.
  Cyhoeddwyd: (2016)
• Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome
  gan: Dufendach, Keith A., et al.
  Cyhoeddwyd: (2013)
• Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals with Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death
  gan: Boczek, Nicole J., et al.
  Cyhoeddwyd: (2015)
• Transient Outward Current (I(to)) Gain-of-Function Mutations in the KCND3-Encoded Kv4.3 Potassium Channel and Brugada Syndrome
  gan: Giudicessi, John R., et al.
  Cyhoeddwyd: (2011)