10 YEARS OF SUPPORTING FAMILIES, RESEARCH, AND COMMUNITIES
UNITY. HOPE. STRENGTH. LOVE
10 YEARS OF SUPPORTING FAMILIES, RESEARCH, AND COMMUNITIES
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.
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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.
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KCNQ2 Connections
Praxis EMERALD Clinical Trial
KCNQ2 Cure hosted a webinar for the KCNQ2 community featuring a discussion with Praxis Precision Medicines. Praxis Precision Medicines is a clinical-stage biopharmaceutical company focused on developing therapies for disorders of the central nervous system characterized by an imbalance between neuronal excitation and inhibition, a mechanism that is highly relevant to many developmental and epileptic…
Reflections from the American Epilepsy Society Meeting 2025
Earlier this month, KCNQ2 Cure Alliance members attended the American Epilepsy Society (AES) meeting in Atlanta, Georgia. Our goal was to connect with scientists, clinicians, and industry partners to learn about the latest advances in epilepsy research and therapies relevant to our community. Advances in Channelopathy Research We first joined a group of researchers who study…
KCNQ2 Cure's Fundraising Handbook
Be an active supporter in the quest to cure KCNQ2-Related Disorders. Download our toolkit to launch your personal fundraising event.
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