Access Data & Biospecimens
We partnered with Ciitizen on a U.S. digital natural history study. Through a partnership with COMBINEDBrain and the Van Andel Institute we began collection of biospecimens in 2023 are developing hiPSCs.
Brain tissue from two donors is also available through the NIH Neurobank.
Apply for access to our Biobank here.
To apply for access to our registry or data contact Ali@KCNT1Epilepsy.org
Supporting Research
Our Research Strategy
We aim to support research projects that reach from discovery science, to the characterization of the physiology and psychosocial aspects of our community, to cellular and preclinical models of our disease. Our goal is to help find and develop safe, effective therapies for our KCNT1-affected individuals and their families as quickly as possible. We seek to partner with academia, industry, government, other Parent Advisory Groups and more to fund opportunities and consider research and development programming.
Our Research and Development Priorities
Identify and develop therapies for our community
Understand the etiology of KCNT-related epilepsy
Cultivate an open, inclusive, and collaborative research community
How We Advance Research & Development
Targeted Priorities
Patient Registry
Patient Natural History Study
2024 Grant Cycle
The 2024 grant cycle is now open for submission and will close at 8PM EST on April 29, 2024.
Seed Grant Awards
Our 2023 grant, co-funded with the Penn Orphan Disease Center, is awarded to Dr. Rajvinder Karda, University College London, to study Novel Adeno-associated viral vector (AAV) mediated RNA editing treatment for KCNT1 epilepsy. Dr. Karda’s proposal aims to develop a novel RNA editing therapy treatment for EIMFS, altering the mutated KCNT1 protein code so less mutant protein is made. They will deliver the RNA treatment within a virus called adeno-associated virus (AAV), seeking a reduction in the amount of mutant KCNT1 protein in neurons and normalization of channel activity. They will test the treatment in cells donated by patients with KCNT1 epilepsy.
2023 funding was awarded to Leanne Dibbens at the University of South Australia towards a repurposing drug study.
Our 2022 grant went to William Tobin, PhD, University of Vermont and State Agriculture. In partnership with CURE Epilepsy and their Taking Flight Award, we were able to provide a one year grant to study KCNT1: Target Optimization in Precision Treatment of KCNT1-Related Epilepsy. The discovery of epilepsy-causing gene variants has facilitated the development of precision medicines that target the molecular causes of disease. But to realize the full, side effect-free, therapeutic potential of these tools, they need to be targeted to the right cells and brain regions. Dr. Tobin will test strategies to optimize cutting-edge gene and drug therapies by selectively targeting the most severely affected cells and brain networks in a mouse model of KCNT1-related epilepsy. Each treatment will be evaluated not only in terms of seizure control but also in its ability to normalize brain activity – recognizing that our true goal is to holistically restore normal function in the epileptic brain. Read the final report.