10 YEARS OF SUPPORTING FAMILIES, RESEARCH, AND COMMUNITIES

UNITY. HOPE. STRENGTH. LOVE

UNITY. HOPE. STRENGTH. LOVE

What is KCNQ2?

KCNQ2 is a gene that plays a vital role in brain function by controlling how nerve cells communicate through electrical signals. It is essential for normal brain activity, particularly in early development. Changes in the KCNQ2 gene are among the most common genetic causes of neonatal seizures, but KCNQ2-related disorders can vary widely in their impact. Some newborns may have brief, self-resolving seizures with no lasting effects, while others experience more severe seizures that can interfere with their development. However, seizures are not always present—some children with KCNQ2-related disorders may primarily face developmental delays, movement difficulties, or other neurological challenges without ever experiencing seizures. The effects of a KCNQ2 genetic variation depend on the specific change in the gene, influencing the severity and symptoms a child may have.

NEWLY DIAGNOSED

You are not alone. Connect with other families, get support, and locate resources.

RESEARCH

Follow the latest research on KCNQ2 and learn how to participate.

GET INVOLVED

There are many ways to help and to participate in the KCNQ2 movement.

DONATE NOW

Become a KCNQ2 champion. For every dollar you contribute, we are one step closer to a CURE.

The ABC's of KCNQ2

The KCNQ2 Cure Alliance (KCA) is dedicated to advancing research and resources for families affected by KCNQ2-related disorders, and its efforts have helped support greater awareness and understanding of these conditions. KCA has fostered research that informs families and medical professionals through advocacy, collaboration, and funding initiatives. KCNQ2- and KCNQ3-Associated Epilepsy, published in Cambridge Elements - Genetics in epilepsy, provides a comprehensive look at the role of KCNQ2 and KCNQ3 genes in neonatal-onset epilepsy, highlighting the variability of symptoms, from mild to severe, and the different ways these genetic mutations can affect development. This resource offers a clearer picture of what a KCNQ2-related diagnosis means, helping families navigate treatment options and better understand their child’s condition. The article serves as a critical reference for professionals, compiling the latest research on genetic mechanisms, clinical presentations, and emerging therapeutic approaches.

Subscribe to the KCNQ2 Connections Newsletter

For news and updates on the latest KCNQ2 research, clinical trials, conferences, and family meet-ups.

KCNQ2 Connections

Connecting Science and Community: Dr. Brooke Babineau Charts KCA’s Research Path as New Scientific Director

By Scotty Sims | June 6, 2025

Hi! I’m Brooke Babineau, the new Scientific Director for the KCNQ2 Cure Alliance (KCA). I’m honored to join this devoted community and support a mission that empowers families through education, meaningful connections, and advances in innovative research focused on the development of new treatments—and ultimately, cures —for people affected by KCNQ2-related disorders. A bit about…

Reflections from the Rare As One Meeting

By KCNQ2 Cure | May 30, 2025

Reflections from the Rare As One Meeting: A Joint Message from Our Executive and Scientific Directors We recently returned from an invigorating three-day convening of the Chan Zuckerberg Initiative’s Rare As One (RAO) Network in the Nevada desert. This gathering brought together foundation leaders, scientists, and strategic partners who all share a mission to accelerate…

KCNQ2 Collaborations

Collaboration is key to efficiently advancing our mission to improve the lives of those with KCNQ2-related disorders.

While KCNQ2 itself is a rare disease, it has many commonalities with other rare and not-so-rare disorders and manifests with symptoms – such as autism, sleep and mood disorders, and GI issues – that are seen quite commonly. We welcome discussions and partnerships with doctors, researchers, academic institutions, biopharmaceutical companies, and patient organizations, on a global basis, who share our passion for advancing treatments for patients with KCNQ2. If you are interested in opening the dialogue with KCNQ2 Cure Alliance, please contact our Executive Director.