KCNQ2 Connections
Q2 Quick Note #03: Early Trial Results for Bexicaserin in DEE
A phase 1b and 2a clinical trial tested bexicaserin in people with severe epilepsies and found early signs that the medication may help reduce seizure activity. Researchers report that the treatment was generally well tolerated, supporting continued study in future trials.
Q2 Quick Notes: Breaking down the latest in KCNQ2 research
KCNQ2 DEE: Lived Experiences and Outcomes1 Dr. Michele Postashman’s newly published article in Epilepsy & Behavior details a qualitative, lived experience study of individuals and families affected by KCNQ2-DEE. With recruitment help from KCNQ2 Cure Alliance (thank you to those who participated!), they interviewed 53 parents of people with the disorder. Findings show that non-seizure…
Q2 Quick Note #02: Genetic Findings in a Turkish DEE Cohort
Researchers in Turkey used gene panels and whole exome sequencing to study the causes of developmental and epileptic encephalopathies, identifying KCNQ2 as one of the most frequently involved genes. The findings highlight the importance of early genetic testing for accurate diagnosis and care planning.
Q2 Quick Note #01: Lived Experiences of Families Affected by KCNQ2-DEE
A new study involving 53 parents of children with KCNQ2-DEE highlights that communication challenges, cognitive delays, and daily living needs are often more burdensome than seizures. These insights help guide future treatments that focus on quality of life, not just seizure reduction.
Reflections from the 2025 KCNQ2 Cure Summit in Philadelphia
From September 26th to 28th, 162 members of the KCNQ2 community came together in Philadelphia for our 8th Family and Professional Summit. Attendees traveled from 22 states and six countries, joined by more than 30 researchers, clinicians, and industry partners. We were thrilled to welcome over 20 first-time families, nearly 20 KCNQ2 Cuties, and a…
Building Momentum: Insights from the KCNQ2 Research Roundtable
At this year’s KCNQ2 Cure Alliance Family and Professional Summit, Drs. Brooke Babineau and Alfred George brought together leaders from the scientific, clinical, and patient advocacy communities for a Research Roundtable. The goal was to shed light on emerging discoveries in KCNQ2-related disorders while underscoring the ongoing challenges in identifying effective treatments. We left the…
The Power of a CRID for Every KCNQ2 Family
Living with KCNQ2-related disorders means navigating a world of challenges-seizures, developmental hurdles, motor difficulties, behavioral complexities, and more. For those of us in the KCNQ2 community, the urgency for better treatments and brighter futures is personal. We want answers, and we want them now. But one major roadblock is that our community’s vital health data…
Connecting Science and Community: Dr. Brooke Babineau Charts KCA’s Research Path as New Scientific Director
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
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…
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…