Posts by Scotty Sims
Update on Opakalim – Kv7 activator
Biohaven shared new data this week on their experimental epilepsy medicine opakalim, including an update involving a child with KCNQ2-DEE. In the six-month follow-up, the company reported that the child…
Read MoreGuest Blog – Why We Drove 3 Hours to Donate Samples
Why We Drove 3 Hours to Donate Samples (And Why You Should Too!) When you are navigating a rare disease journey, you quickly learn that every drop of data counts.…
Read MoreQ2 Quick Note #15: Rare Epilepsy ICD-10 Codes are Not Used Consistently
Excerpt A new study reveals that many people living with rare genetic epilepsies receive generic ICD-10 codes, even when syndrome-specific codes exist. What It’s About Researchers at UT Health Houston…
Read MoreQ2 Quick Note #14: Genotype-Phenotype Analysis in 84 People with KCNQ2-Related Disorders
Excerpt This study explored how specific genetic changes in KCNQ2 relate to differences in symptom expression. It showed that it’s not just which segment of the Kv7 channel is affected…
Read MoreEstablishing KCNQ2 p.G281R Mouse as a Preclinical Model for Therapeutic Discovery
KCNQ2 Cure is excited to announce a new KCNQ2‑DEE research grant, funded in partnership with CURE Epilepsy. Together, we are co-funding this Rare Epilepsy Partnership Award to support the development…
Read MoreBreaking Down the Clinical Trial Process
Clinical trials are an essential part of therapeutic development. At each step, researchers take great care to ensure the treatments they are testing are both safe and effective. You may…
Read MoreQ2 Quick Note #13: A Meta-Analysis Explores Clinical Outcomes in People Living with KCNQ2-DEE
Excerpt This large-scale review of published studies emphasized that KCNQ2-DEE symptoms extend beyond seizures, with the majority of individuals experiencing neurological and developmental challenges as they age. What It’s About…
Read MoreQ2 Quick Note #12: Functionality Dictates Potassium Channel Location
Excerpt Researchers found that Kv7 channels that do not function properly may also fail to reach their correct location in neurons. What It’s About By zooming in and looking at…
Read MoreKCNQ2 Awareness Why We Recognize It in March
Channeling Hope: Why We Recognize KCNQ2 Awareness in March Each year in early March, our global community recognizes KCNQ2 Awareness Day on March 2 as part of KCNQ2 Awareness Week.…
Read MoreSupporting Research for KCNQ2-Related Disorders
The KCNQ2 Biorepository Through our partnership with COMBINEDBrain, the KCNQ2 Cure Alliance has started to generate a collection of biological samples, called a biorepository. Different types of biological materials have…
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