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 Chung Lab at Boston Children’s Hospital.
Why do we need EEG data?
A research study at Boston Children’s Hospital 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:
- which individuals are most at risk for developing seizures
- what medications may be most effective, and
- 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, 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?
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?
Email the KIF1A Study team at ASCENDstudy@childrens.harvard.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.