Frequently Asked Questions
In the information below, "my" means "your" or "your child's" or "your patient's".
Q: My mutation is not listed in this database. Why could this be? Should I contact RIKEE about enrolling, and why?
Although KCNQ2-related illnesses are uncommon, we believe that many of the people who have these conditions have not yet undergone genetic testing. Because the number of known cases is so low, many of the known mutations have only so far been detected in one patient. For this reason, it is very helpful to continue to add as many new variants as we can. If you register, you have the option of contributing your information for research in the lab, without direct listing in the website. However, you will also have the option of having your variant listed directly in the website, making it known to researchers, familiies, and caregivers sooner.
Q: My mutation is already listed in this database. Should I contact RIKEE about enrolling, and why?