Timothy Syndrome is rare genetic disorder that causes serious complications in the heart and nervous system. Timothy syndrome is diagnosed within days of birth when the infant begins to show symptoms including hypoxia, congenital heart defects such as arrhythmia, webbing between fingers or toes, and facial anomalies. Later, symptoms such as weakened immune system, developmental delays, and autism may appear. Timothy syndrome is caused by a mutation in the gene CACNAC1C, which is located on chromosome 12 and is involved in controlling calcium channels in tissues such as the immune system, the brain, and cardiac muscle cells. The average age of death in individuals with Timothy syndrome is approximately 3 years, but some individuals have survived into their teenage years. Currently, treatment for Timothy syndrome is different for each affected individual, but the main priority of all treatment is to maintain cardiac normality.
Timothy Syndrome Bioinformatics Tool
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Timothy Syndrome below!
For more information on how to use Laverne, please read the How to Guide.
We have 344 products for the study of Timothy Syndrome that can be applied to Western Blot, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry from our catalog of antibodies and ELISA kits.