KCNQ2 Sleep Study

KCNQ2 Cure has partnered with international pediatric neurologist Ingrid Scheffer, who was instrumental in the identification of KCNQ2 encephalopathy.

 

Dr. Ingrid Scheffer is conducting a sleep study specific to KCNQ2. Anyone who has a child affected by a change in the KCNQ2 gene is able to participate. The study will also be translated into other languages at a later date. If you are interested in participating there are several steps you must follow. It takes less than 10 minutes to complete the survey itself. If you have any questions please contact Scotty Sims.

Don’t have a printer/scanner. You can download Adobe Acrobat DC Reader for free. This will allow you to review, complete, and sign documents on your computer.

  1. Read the introduction letter from Dr. Scheffer
  2. Review PICF Parent Guardian information sheet OR
    PICF Person Responsible information sheet if your child is over 18 years of age.
  3. Review and sign PICF Parent Guardian consent OR
    PICF Person Responsible consent if your child is over 18 years of age.
    Make sure you check the box titled “I agree to the collection and storage of ___’s DNA sample and to the use of this DNA sample for genetic testing as outlined in this document.”
  4. Complete Medical Record Consent – in the FROM section of the consent please list all main doctors and hospitals involved where EEG and MRI and genetic testing is done.
  5. Complete Contact details – under FAMILY NAME please list the full name of child and guardian(s).
  6. Complete Sleep Disturbances Scale for Children

Completed forms can be emailed to Dr. Scheffer’s research assistant Fiona Gardiner at fiona.gardiner@unimelb.edu.au.

**The email should be titled “KCNQ2 sleep study” and have four (4) attached documents: consent, medical record consent, contact details, and the sleep scale.