Channelopathies Flashcards
1
Q
What is Timothy syndrome? Which gene is affected?
A
The Cav1.2 gene is the associated with Timothy syndrome. Timothy syndrome is a rare childhood multi organ disorder. Average survival is 2-3 years. Two mutations in G406R and G402S are linked to TS. It is a physiological and developmental disorder in the heart brain and immune systems. Main cause of death: cardiac ventricular fibrillation. Autism is identified in TS patients. TS mutation of cav1.2 could impact neuron development and / or excitability.
