For Parents and Families: 

Frequently Asked Questions

 

Q: Who can have their information included in the electronic registry and the online database?

Anyone who has a current or past history of:

• seizures and/or developmental delay

             AND

• any genetic variant (change or mutation) in KCNQ2 or KCNQ3 detected by DNA testing

 

If you have a personal or family history of benign neonatal seizures and a KCNQ2 mutation, or your child has epilepsy proven to be or possibly caused by a KCNQ2 mutation, you/they will be eligible to participate.

 

Q: What is the purpose of the patient registry:

The goal of the registry is to identify as many KCNQ2 variants as possible.  This will:

• help current and future research into specific symptoms, causes, treatments, and cures.

• increase the speed with which patients with this uncommon disorder can learn of and gain access to novel treatments.  Registry participants will always be contacted before any personally identifiable information is provided to any researcher.

Funding for the RIKEE Registry has been provided by a Research Infrastructure Grant from American Epilepsy Foundation and Epilepsy Foundation, by Baylor College of Medicine, and by Jack Pribaz Foundation.

 

Q: I am interested in RIKEE Research. How do I get involved? 

Participation is voluntary and will not affect any medical decisions between you and your doctor.  If you agree to participate you will be asked to complete a consent form. If you are interested in learning more and/or participating, contact stufdy staff by emailing kcnq2info@bcm.edu or calling 713-798-3464. We will send you relevant documents and schedule a phone meeting to answer any questions.

 

Q: Is my personal information secure?

All electronic data will be housed on a secure computer system. Any non-electronic copies of records will be scanned and the originals will be destroyed.

 

Q: If my child has a unique variant, won't their mutation be personally identifiable on the website? 

It is true that if your child has a unique variant, it may be the only case listed under a particular variant. Of course, all personally identifiable information including names, location, etc. will be removed. Only individuals who know your child's variant will be able to identify the case as your child's.

 

Q:  Do I need to sign up by a specific date?
The Registry does not have a planned end date, so you may choose to sign up at any time. Our hope is that the database will grow as much as possible in order to increase the potential and possibilities for future research projects. 

 

Q: What does it mean if my variant is already listed in the KCNQ2 Variant database? Should I still join the registry if my mutation is already listed in the database? 

If your mutation is already listed in the KCNQ2 Variant database, this means that another individual (or family) with your same mutation has either been described in the medical literature, been listed in the NCBI ClinVar database, or has consented to participation in the RIKEE KCNQ2 registry.  It is very helpful for patients to participate even if the variant has already been described.  

 

Q: I do not speak English. Can my child still be included in the registry? 

We are currently only able to accommodate families who speak English and Spanish. We have a Spanish version of the consent form, and are able to arrange phone conversations with Spanish interpretation.

 

Q: I do not live in the United States. Can I still be involved? 

This is an international registry. As long as we can obtain informed consent, it is possible for one to get involved. 

 

Q: My variant has already been published in a peer reviewed journal. Am I still eligible to register? 

Yes, you can still register even if your variant has already been published. For an inforgraphic on the 4 pathyways of enrollment, go to the About this Database. 

 

Q: My physician has already included me anonymously in the registry after obtaining verbal consent. Can I still register directly in the registry? 

Yes, you can register fully even after your physician has enrolled you anonymously. For an inforgraphic on the 4 pathyways of enrollment, go to the About this Database.