Advancing Discovery: For Researchers
Support, Funding, and Resources to Accelerate KCNT1 Science
KCNT1-related epilepsy is an ultra-rare, severe condition typically beginning in infancy. With mutations affecting potassium ion channels, it presents both a clear target for precision medicine and significant challenges for drug development.
Our foundation supports research across discovery, characterization, and translational development to accelerate safe, effective therapies for affected families.
Active Support for Your Research
Active Support for Your Research
Seed Grant Funding
- 2025 applications are open.
- 2024 Million Dollar Bike Ride: Jillian McKee, MD, CHOP
- 2023: Dr. Rajvinder Karda (UCL) – AAV-mediated RNA editing
- 2023: Dr. Leanne Dibbens (UniSA) – Drug repurposing
- 2022: Dr. William Tobin (UVM) – Precision gene therapy targeting
What Makes KCNT1 Different
Ultra-rare genetic epilepsy
Caused by KCNT1 gain-of-function mutations
High seizure burden
Often 40–100/day, severe developmental delays
Affects ion channel function
Offering clear drug target potential
Underserved patient population
Often told “nothing can be done”
Growing global community
561 families as of 5/31/25, updated quarterly
Our Research Investment Principles
“We don’t fund research by chance—we fund it with purpose.”
Every project is reviewed for urgency, scientific merit, and alignment with family needs. Proposals are evaluated by our Scientific Advisory Board (SAB)—leaders in rare epilepsy, translational science, and clinical development.
Translational potential
Could it lead to a treatment?
Strategic fit
With our research categories
Addressing gaps
In tools or understanding
Responsible budgets and timelines
Ensuring efficient use of resources
Credible investigators and institutions
Working with established experts
“We believe in science with strategy—and urgency with oversight.”
Research & Development Priorities
Develop and test therapies
Understand etiology and pathophysiology and clinical variation
Promote open and inclusive collaboration across fields
Explore the KCNT1 Research Library
We are building a centralized and searchable KCNT1 Research Library using Zotero—a free, easy-to-use tool for collecting, organizing, and sharing research. This library will support cross-institutional collaboration and accelerate discovery.
Visit Zotero.org to get started. (Directory launch date to be announced.)
Investigator Resources
Biospecimens & iPSC Access
Patient-derived materials for your research
EEG/EMR Datasets
Via CHOP + Citizen Health
Cellular & Animal Models
2D/3D cellular models and humanized mouse lines
Patient Registry
Registry of 561+ global cases
Genomic data
Trio genome and phenotype data
Let’s Accelerate Discovery—Together
Academic labs and clinician-scientists
Research partnerships with leading institutions
Early-stage biotech and pharma
Industry collaborations for drug development
Government research initiatives
Public funding and regulatory support
Patient-led innovation teams
Family-driven research priorities
Together, we can unlock life-changing therapies for one of the most severe pediatric epilepsies.
