What is an Ion Channelopathy? Ion Channelopathies are disorders and diseases that result from problems associated with an ion channel. The problem can be genetic such as an inherited mutation or it could be due to an acquired cause due to the genetic variance that allow the ion channel to function normally unless the ion channel is exposed to a certain drug, temperature, pH, toxin or other changes in the body that impair ion channel's function. Genetic or acquired, ion channelopathies cause a range of pathological conditions including seizures, cardiac arrhythmias, hypertension, cancer, asthma, deafness, skeletal muscle weakness, sudden infant death syndrome and migraines. A good paper overviewing ion channelopathies can be viewed here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935107/ Directions: From the list of Cardiovascular Ion Channelopathies, chose one cardiovascular channelopathy to research and write a paper that is at least 2 pages in length. The paper must be typed, use 12-point Arial Font, single spaced, have correct spelling and proper grammar. The paper must use 3 credible sources (does not include the textbook or wikipedia) with a citation page in either APA format. Citations can easily be generated using www.citethisforme.com Select One of the following Ion Channelopathies to write about: Familial Atrial Fibrillation Type 10 Brugada Syndrome Type 5 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 Timothy Syndrome (Long-QT Syndrome Type 80) Andersen-Tawil Syndrome Type 1 The following topics must be addressed on your chosen ion channelopathy: Introduction/Background Information: Name of the Channelopathy, when was it discovered, who discovered it, how was it discovered, how many people in the US or world have the channelopathy (can also be reported as an incidence such as 1 out of 10,000 people) Genetic Inheritance: Which ion channel gene is mutated? Which ion channel is affected? What role or function does this ion channel play do in the heart (membrane potential maintenance, involved in part of the Action Potential. If part of the action potential state which phase). Does the mutation cause an increase or decrease in ion channel function? Provide 1 example mutation by explaining which amino acid is missing, added or changed. Which chromosome is this gene located on? How is it inherited (recessive, dominant, de novo)? Clinical Description of the Disorder: How does the channelopathy affect the patient? What is it like to have the disorder? How would describe the channelopathy to someone else? What other problems (social/health) are associated with the channelopathy? What is the patient's

life expectancy? Is the channelopathy more common in a certain demographic (biological sex, race, ethnicities, etc.) Detection of the Disorder: How is the channelopathy diagnosed? Is there anyway to detect a carrier of the disorder? Treatment of the Disorder: What are the treatment options for the channelopathy? Is there a cure? What can be done for these patients to ensure a qualitative life?