Table of Contents
What is rs1006737?
The CACNA1C risk allele rs1006737 is associated with age-related prefrontal cortical thinning in bipolar I disorder.
What is the CACNA1C gene?
The CACNA1C gene provides instructions for making one of several calcium channels. Calcium channels, which transport positively charged calcium atoms (calcium ions) into cells, play a key role in a cell’s ability to generate electrical signals.
What is the RYR2 gene?
The RYR2 gene provides instructions for making a protein called ryanodine receptor 2. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells.
What is CACNA1A mutation?
All children with CACNA1A-related disorder have a pathogenic variant (“mutation”) in the gene CACNA1A, which encodes the instructions to make a protein in the brain called a calcium channel. Pathogenic variants that affect the CACNA1A calcium channel impair the flow of calcium ions in the brain.
What is Cpvt?
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare condition. It causes an irregular heart rhythm that can be life threatening. It often shows up in childhood, but can show up later in life. The first sign is often fainting or near fainting during exercise or strong emotion.
What causes CACNA1A?
These events can be triggered by a relatively minor head trauma, such as a child bumping his or her head. Hemiplegic migraines can be mistaken for a stroke, and in severe cases may involve brain swelling. Some people with a CACNA1A-related disorder can also have migraines without the associated one-sided weakness.
What is CACNA1A disease?
Early Infantile Epileptic Encephalopathy is a seizure disorder characterized by infantile spasms that typically appear before the age of one. Type 42 is associated with CACNA1A and is a form of epileptic encephalopathy. It is characterized by multiple seizure types, epileptiform activity and severe developmental delay.
What is CTVP?
Cardiac Thoracic Vascular and Perfusion (CTVP) SIG.
Is CPVT treatable?
Exercise testing is very important in diagnosis, since the resting EKG is normal with CPVT. Medication to blunt the effects of adrenaline is critically important in CPVT. Additional medication options have now also proven to be effective, making CPVT a highly treatable condition.
Where is the CACNA1A gene located?
chromosome 19
The CACNA1A gene is located in a region of chromosome 19 that is missing in most people with 19p13. 13 deletion syndrome. As a result of this deletion, many affected individuals are missing one copy of CACNA1A and several other genes in each cell. Features associated with 19p13.
What is CPVT?
What causes CPVT?
Most people get CPVT due to a faulty gene they inherit from their parents. The most common form of CPVT is a “dominant” genetic condition, which means that if one parent has the condition, each child has a 50-50 chance of getting it. A rarer form of CPVT happens if you inherit an abnormal gene from both parents.
Is CPVT serious?
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare condition. It causes an irregular heart rhythm that can be life threatening. It often shows up in childhood, but can show up later in life.
Can you live a normal life with CPVT?
This isn’t the same as when your heart rate naturally rises briefly during stress or activity. Although CPVT can be dangerous if left untreated, when you make the right lifestyle choices and follow your doctor’s treatment plan, you can manage this condition and lead a full life.