IMMEDIATE CALL TO ACTION: URGENT EPILEPSY STUDY REQUIRES YOUR EEG DATA

If you or your child has had an overnight EEG, it is critical to understanding strategies to develop potential treatments for our community. We need you to send your EEGs to the Bain Lab at Columbia University.

Why do we need EEG data?

A research study at Columbia University requires EEG data to identify and characterize epilepsy and seizures in KIF1A-Associated Neurological Disorder (KAND). 

KAND comprises over 100 mutations in the KIF1A gene, each of which can influence symptoms differently. We know that many patients in the KAND community experience seizures and other forms of epilepsy. We do not know:

  1. which individuals are most at risk for developing seizures
  2. what medications may be most effective, and
  3. whether there are specific electrophysiological patterns in KAND that are related to phenotypic severity. 

In clearer terms: there is a possibility that every KIF1A patient has some degree of epilepsy. Have you ever been told by a neurologist “well, the EEG is irregular” or “there is some activity, but let’s wait and see.” Well, we’re not a “wait and see” community of families, and those neurologists, while talented, do not yet have a complete clinical understanding of KAND. 

Led by neurologists Dr. Jennifer Bain and Dr. Tristan Sands, this epilepsy study will allow experts to closely analyze these EEGs and natural history data to provide crucial insights into epilepsy diagnosis, evaluate existing treatments, and help develop new treatments. 

What do we need?

The study needs EEG tracings of KAND patients from extended (24-hour or longer) EEGs. EEGs with video recordings or shorter EEGs may also be sent; however, those overnight video EEGs are crucial.

Note: we cannot rely on reports or summaries of the EEG. Our research team needs the actual full EEG data file. These files will be large and will likely be stored on a CD or flash drive. We need you to make some effort. It’s a big ask, we know, with all that’s going on in our lives. But it’s worth it. Your effort in securing full EEG data will make a difference in whether or not we identify, diagnose, and appropriately treat our KAND community with epilepsy. It’s important to understand that there’s more to epilepsy than seizures. There is a possibility that by understanding these EEGs, this dedicated team of researchers and physicians will gain an understanding of multiple challenges our loved ones with KAND are experiencing. 

How can you contribute your EEGs?

Contact the office or department that performed your EEG and request the original EEG full dataset–not just the summary report. If you’ve had multiple EEGs, gather as many full recordings as possible. 

While you’re at it, check to see if you have any additional medical records to gather and send, such as MRIs.

Mail EEG data flash drives or CDs to Columbia University for researchers to evaluate. Include the patient’s name, date of birth, and your contact information. Mail to:

ATTN: Sean Calamia – KIF1A Study
Columbia University
1150 St. Nicholas Avenue, Room 620
New York, NY 10032

Email Study Coordinator Sean Calamia kif1a_study@cumc.columbia.edu to inform the research team when you mail the data.

Questions? 

Email the KIF1A Study team at kif1a_study@cumc.columbia.edu. They are happy to help!

Let’s do this

Thank you for contributing to research to advance better care and treatments for KAND! As a result of this study, researchers will publish their findings to help doctors and families better understand KAND and epilepsy. Our progress would not be possible without you.