KCNA2 2026 Research Update: New Treatments, Registries & Hope with Oriana Horneck & Dr Nancy Musarra

I'm super exci- excited to talk about everything that's going on because I feel like in the last year we've had so much more develop.

It started from maybe from just, like, a couple people sprinkled here and there throughout the world, and now we have a number of centers actually looking into, um, potential drug treatment options into the histories.

Hi, everyone.

I am Dr. Nancy Messara, and you are listening to the KCNA2 and Rare Epilepsy podcast.

Hi, everybody, and welcome to the KCNA2 and Rare Epilepsy podcast.

Today, we are gonna talk to somebody very well-known to the KCNA2 community, Oriana Hornik.

And the reason we're gonna talk today is because we really wanna update people on what's going on with the KCNA2 research.

We, um, are gonna put a link at the bottom of this podcast, and that link is gonna be our contact registry.

So if you are a family who has a diagnosis or somebody in your family has a diagnosis of KCNA2 epilepsy, and you have not signed on to our contact registry, please do so, so that we know who you are and where you are.

It's important for a lot of different reasons we're gonna get into today.

So far, we have con- connected with 129 people who are diagnosed, um, around the world, and on our contact registry, that includes 129 people, but in 34 different countries.

And what we've learned about the information we've gained is that 41% of our-- the people that have contacted us have a loss-of-function KCNA2, 22 have a gain-of-function, 22%, and 14% have a mix-of-function KCNA2 variant, and 23% are unidentified.

Now, what does mix, loss, and gain mean? Well, what we know about KCNA2 epilepsy is that the potassium channel functions differently, and it depends on which-- what your variant is.

Some of-- Some people have a loss of function, which means the potassium channel is putting less potassium into the cell.

Some have a gain of function, which is the opposite.

There's a gain of function.

There's a lot more potassium into the cell than, than is needed.

And some have a mix, and that means it kind of varies.

It-- There's some loss, some mix.

We don't really know and understand that variant very well.

And then there's other people who have been diagnosed with KCNA2, but their, their mut-- the variant, variation is just unknown.

They don't even know if it's a loss or mix.

And we do have people around the world looking into those variants, so we can try to identify them and help, um, clarify what treatment that person may need.

So that was kind of an introduction to who we are.