Ahead of our 2022 Virtual KAND Family & Scientific Engagement Conference on August 13, 2022, KIF1A.ORG interviewed core KIF1A Research Network members to discuss their #relentless efforts to understand KIF1A and help KAND patients in this special “Meet the Research Network” series on the KIF1A.ORG blog.

KIF1A.ORG’s Research Engagement Director Dylan Verden, PhD, had the pleasure of talking with Tristan Sands, MD, PhD, an associate professor at Columbia University and expert on neurodevelopmental epilepsies. He and Dr. Jennifer Bain are coordinating the first KAND electroencephalography (EEG) study to learn more about how epilepsy and seizures manifest in our community. If you or your child have had an EEG, your data is crucial. Learn more about participating in the KAND epilepsy study here.

Electroencephalogram (EEG): An EEG test can diagnose disorders that affect the brain. It measures the electrical impulses in the brain, and can identify abnormal brain activity. Neurons communicate through electrical impulses. An EEG can detect abnormalities in these electrical pulses. During the test, the patient has electrodes with wires attached to their scalp in order to detect the brain activity.


Dr. Sands: My name is Tristan Sands, I’m an assistant professor of Neurology at Columbia University, and I’m a pediatric epileptologist by training with a clinical and research bent towards genetic causes of epilepsy in neurodevelopmental disability.

Dylan: Epilepsy is a term that I think is commonly known as something that causes seizures, and that’s a pretty simple definition. But why is diagnosing and treating epilepsy more complicated than that description might entail?

Dr. Sands: I guess what makes it simple is that it’s a risk for seizures, but what makes it complex is that there are many different types of epilepsy and many ways that that risk for seizures can manifest in individual patients. And I think the most important aspect of it, the part that we as clinicians worry about regularly in the field of epilepsy, is concerns that the disturbances to the EEG and disturbances from seizures have the potential to impact patients beyond the cause of their epilepsy or their seizures. In other words, add to the neurodevelopmental disability beyond the etiology itself. For instance, KIF1A mutations.

Dylan: Within that context, it sounds really important to get a handle on epilepsy subtype and consequences as soon as possible. And we have a lot of parents who share videos or descriptions of their child’s behavior and ask if this is a seizure in epilepsy. What kind of things do you take into consideration when trying to figure out what kind of epilepsies might be manifesting in a child?

Dr. Sands: Yeah, that’s a great question. Definitely part of it is what is a seizure, what is not a seizure, those sorts of things are critical because folks can have an abnormal EEG and have unusual episodes that may not be seizures, and that’s important to identify and distinguish from seizures in order to prevent overtreating patients with medications that they may not need. On the flip side, seizures can be quite subtle and may be difficult to appreciate by eye. They really run the spectrum from brief staring spells to full on convulsions.

And so, the biggest thing, the most important tool we have at our disposal, and this kind of gets to the work that we’re doing, is EEG. Because EEG provides a direct readout of brain activity for a patient when they’re awake, when they’re asleep, and defines in many ways whether an event is a seizure, and if it is,, what kind of seizure it is, with implications for what types of medication might be used and what kind of treatments might be ideal.

Dylan: And this is obviously something that a lot of parents and their physicians have engaged with on an individual level to understand their child’s condition. When we’re talking about rare diseases like KIF1A Associated Neurological Disorder, why is it so important to collate this data?

Dr. Sands: Yeah, that’s the most important question. And it’s because everybody’s providers are working so hard to understand their epilepsy, understand that particular child – I do it too. We’re very focused on the EEG and how it’s changing and whether or not medications are working. And that is all very rich information. And especially the EEG data is rich data. But physicians are seeing KIF1A patients all over the world and nobody is seeing a large number, and certainly there’s not one place that’s reviewing all that information.

And we’re sort of in a situation where we’re all looking at very specific pieces of information on just a patient or a handful of patients, and there’s no big picture perspective on what the EEGs look like across many patients, what it looks like in patients with different types of variants, and what the seizures are like in the different patients and what medications seem to be most beneficial in certain situations. And so the purpose of this work and the importance of doing something like this, is to be able to for, for the first time, really provide that big picture perspective and see what we can learn. Because it just hasn’t been done, because as you said it’s quite challenging. EEG data is not easily shared, unfortunately. It’s a lot of data where it really requires that it be put on some sort of media or stored in a cloud, and there’s privacy issues associated with sharing that data. And so, whereas EEG reports are easily shared, they’re not the same as having the same set of eyes looking at the squiggly lines from across all of the different individuals. And so that’s really what we’re trying to do, and see what we can learn when we do that.

Dylan: Dr. Sands, this is obviously a very important study and I’m sure that there are a lot of parents who will be very excited to get their EEG data assessed in this way. How does this relate to the one-on-one clinical care that they’re getting with their physicians and with their EEG specialists?

Dr. Sands: This’s a really important question and I’m glad you asked. This is really not meant to be a second opinion. The idea is really to provide on a research basis a viewpoint across many individuals. I think it’s important to realize that individual patients’ doctors know them best and so this really not meant to substitute or provide any clinical benefit directly to patients. It’s really to ask, “what do we learn when we look at patients in aggregate?”

Dylan: As somebody who has engaged with this community, who’s engaged with research, and who’s engaged with clinical practice, are there any thoughts or messages you’d like to share with our KAND community?

Dr. Sands: You know I’ve been so impressed with this community and the level of organization and activism that… I’m just really proud to be part of the effort, and I’m excited to see what we can learn when we work together on this. So I’ll just say it’s quite a remarkable opportunity that I hope everyone takes advantage of.

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