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Month: December 2025
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…
Q2 Quick Note #06: KCNQ2 Variants and Their Effects on Patient-Derived Neurons
Researchers compared different pathogenic KCNQ2 variants to see how they affected the way neurons grew, the genes they expressed, and how they functioned. What It’s About Stem cells donated by three individuals, each carrying a different KCNQ2 variant, were grown into neurons and studied at three levels: physically, genetically, and functionally. The team looked at…
Promising Results from EMBOLD Study: What this Means for the KCNQ2 Community
KCNQ2 Cure Alliance attended the American Epilepsy Society (AES) meeting this week. One of the biggest pieces of news shared was positive results from a clinical trial testing a new anti-seizure medication in individuals with developmental epileptic encephalopathy. Read more below on what this means for our KCNQ2 community and stay tuned for more AES…
Q2 Quick Note #05: Gene Effects Only Partly Explain KCNQ2-DEE Developmental Challenges
A new study found that for people with KCNQ2–DEE, the severity of their variant’s effect on Kv7.2 channel function was only modestly correlated with the severity of their developmental symptoms. What It’s About Researchers reviewed medical records from 48 people with KCNQ2-DEE and assigned each person a score based on their non-seizure challenges, including mobility,…
Q2 Quick Note #04: Review Article Highlights Mouse Models of KCNQ2-DEE
A new review article (an article that summarizes other articles) was published, providing an in-depth overview of mouse models with genetically altered sodium and potassium channels. What It’s About This article pulls together what scientists have learned from mouse models with mutations in ion channel genes, including Kcnq2, which encodes the Kv7.2 potassium channel. It goes over eight…