Posts by Scotty Sims
Q2 Quick Note #11: A Search for Early Brain Biomarkers in a Mouse Model of KCNQ2-DEE
Excerpt Using several types of non-invasive imaging techniques (MRI, DTI, PET), scientists tracked how the brain develops in mice carrying a variant in the KCNQ2 gene that has been linked…
Read MoreInterested in Learning More About Gene Therapies?
KCNQ2 and Gene Therapy As genomics technologies continue to advance, so too has the potential of personalized treatments, including interventions that target specific genes. Because we know that variants in…
Read MoreQ2 Quick Note #10: New Gain-of-Function KCNQ2 Variant Identified
Excerpt By following one child’s case, researchers learned that her KCNQ2 variant caused overactive Kv7.2 channels and found that a medication could calm this overactivity in lab-grown cells. What It’s…
Read MoreQ2 Quick Note #09: Kv7.2 channels out of place in a KCNQ2 mouse model
Excerpt When scientists studied mice with a KCNQ2 variant linked to severe DEE, they found that their Kv7.2 channels were building up in a different part of brain cells than…
Read MoreQ2 Quick Notes #08: Electronic Medical Records Help Show Trajectories of SCN8A-Related Disorders
Excerpt Researchers used existing medical records and data from the International SCN8A Registry to create individual profiles of people with SCN8A-related disorders. When combined, they revealed common patterns in how…
Read MoreQ2 Quick Note #07: Carbamazepine Improves Memory in Kcnq2 Mouse Model
Researchers treated mice carrying a Kcnq2 gene variant with a sodium channel-blocking drug called carbamazepine. Mice that received the drug had fewer seizures and performed better on memory-related tests compared…
Read MorePraxis EMERALD Clinical Trial
KCNQ2 Cure hosted a webinar for the KCNQ2 community featuring a discussion with Praxis Precision Medicines. Praxis Precision Medicines is a clinical-stage biopharmaceutical company focused on developing therapies for disorders…
Read MoreReflections 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…
Read MoreQ2 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…
Read MoreQ2 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.…
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