KCNT1 Epilepsy Foundation

The KCNT1 Epilepsy Foundation was established with a clear mission: to expedite the development of treatments for children affected by KCNT1-related epilepsy. We are dedicated to supporting families and accelerating research by fostering collaboration between families, clinicians, researchers, and various stakeholders. 

Imagine you are anticipating the birth of your new baby, expecting to enjoy their first words, first steps…but instead, end up staying in the hospital with them for months, working with doctors to try to stop seizures from attacking your newborn’s brain. This is the unfortunate reality of families whose child is born with a rare mutation to a gene we all have in our bodies: the KCNT1 gene. This form of pediatric epilepsy was discovered in 2012, and while it is classified as rare, every month more babies are diagnosed.

KCNT1 is a gene that encodes for a protein that helps regulate how potassium ions flow across cell membranes, helping control their firing pattern. When this doesn’t work as planned, seizures erupt. The grim reality is that his type of pediatric epilepsy is not controlled by existing medications. Instead, it is a trial-and-error situation to try to control the seizures, with most of these affected children taking an average of FIVE anti-seizure medications. The result: sedation. Sedation means the developmental windows begin to close for these children.
 
Parents of affected children across the U.S., including Newport Beach resident, Dr Justin West, are determined to find treatments for KCNT1 epilepsy. These parents formed the KCNT1 Epilepsy Foundation. They quickly learned that the only way to engage with researchers and pharmaceutical companies was to find all the people affected, organize the community, and start collecting data on the disease.

In just five years the Foundation has elevated KCNT1, from a relatively unknown form of epilepsy, to a rare disease with a professional network of clinicians and a Scientific Advisory Board of esteemed researchers from around the world. The Foundation has established an international patient registry and, through various partnerships in the rare disease community, now has a natural history study of electronic medical records and a biobank of actual patient blood and tissue samples. These critical assets provide new researchers with the data they need to expedite KCNT1-related epilepsy research.

The Foundation has filled a void for hundreds of families and doctors who, just four years ago, had nowhere to turn after receiving a genetic diagnosis of KCNT1 related epilepsy. Today, the Foundation provides a single point of contact for families, doctors and researchers. Providing educational resources to help newly diagnosed families understand what treatments to seek, and how to advocate for their child.

Doctors are invited to professional conferences to learn more about the condition and can consult with top experts in the field. The Foundation has inspired cross-university collaborations and, through the generous support of donors, has been able to de-risk early-stage drug discovery programs by providing the funding and assets necessary for research.

We are proud of the following accomplishments:

Forming a scientific advisory board

Establishing an international patient registry

Initiating a longitudinal data study

Funding KCNT1 research

Connecting and supporting over 250 families in 37 countries

Equipped parents to advocate for better care for their infants and children

Attracted the interest of dozens of scientists and drug developers

Putting KCNT1 pediatric on the map of important genetic epilepsies

The KCNT1 Epilepsy Foundation's impact transcends mere statistics and figures. It is a lifeline for families, a wellspring of knowledge for medical professionals, a catalyst for collaboration, and a beacon of hope for all those affected by KCNT1 related epilepsy. Its unwavering dedication has redefined the landscape of this condition, providing a brighter, more hopeful future for all involved.

The KCNT1 Epilepsy Foundation depends entirely on funding from individuals, foundations, and corporations to fund vital research, educational and family support programs and operations. Our goal is to be a lean, transparent organization with minimal overhead with the majority of our donations allocated towards funding research and studies. Top management currently take no salaries.

We extend our support to families not only in Orange County, California, but also to 50 countries across the globe. As the accessibility of genetic testing continues to grow, our reach and impact expand, leading to the identification of more families nearly every month.

We're making progress in our fight against this specific type of pediatric epilepsy, but we need your help. KCNT1 epilepsy has no effective treatments, and affected families face great challenges. But there is hope on the horizon. Your support can turn that hope into real change.

Funding research for this condition is crucial. The breakthroughs we achieve in this a seemingly narrow focus can have a ripple effect, reaching not only those affected by this specific form but also extending to related brain disorders, including other pediatric epilepsies that share a similar neurological landscape.

The accessibility of genetic testing is resulting in more families being diagnosed every month. These children need help, and your contribution can make a real difference, saving and improving their lives.

What truly sets us apart is our unwavering commitment to ensuring that every dollar you contribute is directed toward our mission, not inflated salaries or administrative costs. We're a small, dedicated group of volunteers, I personally donate my time to this cause because of an affected family member, but I’ve met families all over the world who need us to also fight for their children.

We are on the verge of amazing breakthroughs. We urge you to stand with us and provide hope to those who need it most, before it's too late.

Sarah L. Drislane

I’m Justin the father of a sweet boy named Andrew who is fighting KCNT1-related pediatric epilepsy. I am also the co-founder and President of the KCNT1 Epilepsy Foundation. 
  
Thank you for being part of this caring, supportive, and growing community. Every month, we meet new families whose children are diagnosed with KCNT1-related pediatric epilepsy and unfortunately, every other month we also lose another. 

It never gets easier. 
  
The longer infants and children go without new treatments for this type of epilepsy, the more lives and childhoods will be lost. The number of affected people is growing. We're now connected with affected families in 38 different countries. The good news is that we are also now connect with at least 73 researchers around the world!   

But the reality remains that diagnosis is still very tough because there are no treatments for this kind of pediatric epilepsy... at least not yet.  
  
Imagine for a moment that you're building a highway from point A to point B. Along the way, there are mountains to tunnel through, rivers to cross, and you might not have all the tools you need. Research is a bit like that, and one of our strategies is to provide tools to researchers to speed up the process of finding new treatments. 
 
Our goal is to provide the tools researchers need to discover treatments  for this serious condition known as KCNT1-related pediatric epilepsy. This goal is supported by very specific , strategies, plans and objectives to also help affected  families navigate this difficult journey. 

Right now we are  working with the parents of children with this form of epilepsy to collect and safely store blood samples and cell lines. We also collect the  much-needed health information  and provide small grants to the innovative scientists and researchers who share our desire to find treatments. We are particularly excited to collaborate with the University of California Irvine (UCI) with labs and their epilepsy program. 
 
It's important to know that many new medicines being tested might not work. Experiments don't always succeed, so we need to keep trying different things until we find medications that work. 
  
Your compassionate support is what makes all of this possible. Thank you! 
  
Justin West, MD