Posts by Scotty Sims
Q2 Quick Note #17: Early Diagnosis and SCB Use Improve Seizure Control in KCNQ2-Related Disorders
Excerpt People with KCNQ2-related disorders who received a prompt diagnosis (~15 days old) were able to start targeted treatment sooner, which was associated with improved seizure control and fewer hospital…
Read MoreCompassionate Use & Expanded Access: A Parent’s Guide
Compassionate Use & Expanded Access: A Parent’s Guide What Is Compassionate Use / Expanded Access? Compassionate Use (officially called Expanded Access by the FDA) is a pathway that allows people…
Read MoreQ2 Quick Note #16: Early EEG Patterns Identified in People With KCNQ2-DEE
Excerpt A study of 110 children with neonatal seizures found that the onset and shape of a specific brain wave pattern called burst-suppression may help identify people with KCNQ2-DEE even…
Read MoreUpdate 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…
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