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
2025 KCNQ2 Roadshow Coming to a City Near You?
2025 KCNQ2 Roadshow: Join the Movement to Advance Research in Your City CLICK TO PARTICIPATE 🚐 KCNQ2 Cure Is Coming to You in 2025 We invite individuals with a confirmed KCNQ2 diagnosis to participate in our KCA Biobank. This is your chance to drive real progress in rare disease research…close to home. In 2025, the KCNQ2…
The Power of 10
KCNQ2 Cure 10th Anniversary: Celebrating a Decade of Progress and Community This year, KCNQ2 Cure turns 10. Double digits! We can scarcely believe it, either. We’ve come a long way. In 2011, 1 family created a Facebook group. That 1 became 10, then 100. In 2025, nearly 1,000 families in 66 countries are part of…
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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