Support / Educational Resources / Research Information
KCNT1 EPILEPSY FOUNDATION
OUR MISSION
We are dedicated to accelerating the discovery of a disease-modifying treatment for our KCNT1 Epilepsy warriors! The Foundation is working to identify and connect families affected by KCNT1-related epilepsies, provide patient perspectives to physicians, researchers, and pharmaceutical industry professionals from all over the world and support preclinical and clinical efforts to develop a cure. These scientists are doing amazing work: hope is truly on the horizon!
OUR Founders
The KCNT1 Epilepsy Foundation was founded in 2019 by Seth Greenblott, who is the father of two, including a daughter with KCNT1-related epilepsy. The foundation has since grown to include parent-patient advocates from around the world and the leading scientific minds working on KCNT1 related epilepsy.
Justin West. M.D.
President and Director of Clinical Medicine
Justin West is a physician and father of three. His youngest son Andrew was diagnosed with KCNT1 related epilepsy at 9 months of age. He is the Director of Clinical Medicine of the Foundation working with researchers and industry to identify and evaluate potential therapeutics.
Read more about Justin’s family.
Samantha MacMechan
Vice Chairman
Samantha MacMechan is a corporate executive and proud mother of a KCNT1 warrior. Her passion for supporting other parents is inspired by her daughter, Charlotte, who was diagnosed with MPEI (Migrating Partial Epilepsy of Infancy) at nine weeks of age. Since the day she and her husband received the diagnosis they refused to accept that this would be their daughter’s fate and set out to find a treatment. Samantha is committed to doing all she can to help not only Charlotte, but the many families who have struggled with receiving this devastating diagnosis.
Sarah is the great-aunt of a KCNT1 warrior and is dedicated to finding treatments for her nephew and all the other warriors. She is a former speech-language pathologist with experience in business and marketing. She is focused on helping the Foundation to achieve its mission of accelerating research and supporting the KCNT1 community. Contact her to learn more about the Foundation programs, to volunteer, or with any questions.
Our partners in advocacy and research
As a small nonprofit, the KCNT1 Epilepsy Foundation relies on many partners in our journey to find new treatments, connect with new families, and provide support to the KCNT1 community. We are grateful to the following organizations and communities for their support.
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AmbitCare
AmbitCare provides free genetic counseling and testing to those who qualify. We are proud to partner with AmbitCare to provide these services to our community.
Through their symptom survey for undiagnosed individuals, AmbitCare hopes to find more people with KCNT1 gene variants.
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Combinedbrain
COMBINEDBrain is a nonprofit consortium devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies, and data.
In addition to sharing resources and advocating for rare diseases, COMBINEDBrain also helps manage the KCNT1 Epilepsy Foundation biorepository so that researchers can compare rare genetic epilepsies.
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CRID Number
The Clinical Research ID (CRID) is a service that enables people involved in clinical research to safely create their own unique universal ID.
We use CRID to connect various research efforts within our community and network of researchers, including the KCNT! Patient Research Registry.
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DEE-P Connections
DEE-P Connections seeks to facilitate connections and share critical resources between the many families impacted by DEEs (developmental epileptic encephalopathies).
Together with many other rare epilepsy foundations, we partner with DEE-P Connections to organize webinars and share and distribute resources between communities.
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GA & Luna
The KCNT1 Epilepsy foundation partners with Genetic Alliance and LunaPBC to operate the KCNT1 Patient Research Registry: a secure platform where KCNT1 families can take part in KCNT1 research by taking surveys and sharing other health information.
Genetic Alliance is a nonprofit that provides training and support to communities building patient registries and conducting research. LunaPBC operates LunaDNA, a technology platform that brings people and researchers together as partners in discovery.
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Invitae
The KCNT1 Epilepsy Foundation is partnering with the medical genetics company Invitae to conduct a digital natural history study using Invitae’s Ciitizen platform.
Families living in the United States can use Ciitizen to gather all their child’s medical records and notes in one place, and then safely share those records with doctors for new consults, or with KCNT1 researchers to help improve our understanding of the disease.
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Orphan Disease Center
The Orphan Disease Center of the University of Pennsylvania Perelman School of Medicine operates the JumpStart Program, which connects patients and foundations to researchers and key opinion leaders, encouraging scientific collaboration. The KCNT1 Epilepsy Foundation is a participant in the JumpStart Program.
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Rare Epilepsy Network
The KCNT1 Epilepsy Foundation is a proud member of the Rare Epilepsy Network (REN), together with many other rare epilepsy organizations and communities. REN works with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy.
ASO Therapies Show Promise for KCNT1
Treatment of KCNT1 mutant mouse models show improvements in behavior and reduced seizures.
Welcome Stanford GC Interns
We are grateful to have the support of three interns this summer: Jacqueline Fung, Michaela Taylor, Astrid Torres!
KCNT1 Epilepsy Foundation Visits London
Foundation Executive Director (center) visits labs to learn about the KCNT1 cell models they are developing. Click to read more.
Co-founder, Justin West participates in a panel of rare dads who are working to make a difference.
We are Proud to Announce Partnership
Today, the KCNT1 Epilepsy Foundation is proud to announce that we have launched a Digital Natural History Study (NHS) in partnership with Invitae. Our goal in establishing this leading-edge program utilizing Invitae’s Ciitizen technology is to accelerate the analysis of patient data for rare disease drug development -- and, in particular, to find treatments and cures for KCNT1. Click to read the press release.
LA Times/OC Interviews Co-Founder
Co-founder Justin West was interviewed for Rare disease week, where he shares his story and determination to find treatments for all the children with KCNT1 related illnesses.
Spreading Awareness During Rare Disease Week
Co-founder Samantha MacMechan interviewed on Good Day Chicago Fox 32 about KCNT1 diagnosis and fighting for a cure .
Raising Awareness of Rare Diseases
Co-Founder, Justin West and his family are featured in a local magazine for Rare Disease Week.
THURSDAY, SEPT 30, 2021
Click on image to register for this webinar on KCNT1-related epilepsies. Presentation by Drs Rima Nabbout, Amy McTague and Guilia Barcia.
February 28, 2021
Rare Disease Day
Today is Rare Disease Day when we support our 300 million brothers and sisters who are suffering from rare diseases. KCNT1 epilepsy is ultra rare, with approximately 300 children in the world with this diagnosis. But hope is on the horizon as new RNA and gene editing therapies are becoming a reality. Help support the Foundation with a donation today. Every little bit helps!
JAN 10, 2021
What It’s Like To: Seek a Cure for a Rare Disease
Dr. Justin West, an Orange County plastic surgeon, describes his 3-year-old son’s genetic seizure disorder and the search for treatment.
https://www.orangecoast.com/features/what-its-like-to-seek-a-cure-for-a-rare-disease/
DEC 08, 2020
Open Book with the KCNT1 Epilepsy Foundation
MAY 26, 2020
KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance to Launch Patient-Led Discovery Program
Program incorporates patient-driven study to inform research and drug development for KCNT1-related epilepsy