Q2 Quick Notes
Breaking Down the Latest in KCNQ2 Research
Q2 Quick Notes
Breaking Down the Latest in KCNQ2 Research
Q2 Quick Notes
Q2 Quick Notes provides weekly KCNQ2 research updates in simple language to help families, clinicians, and researchers stay informed. Each update highlights a new study, clinical trial, or scientific finding related to KCNQ2 developmental and epileptic encephalopathy. This page gathers all Q2 Quick Notes in one place so you can explore recent discoveries and follow ongoing progress in KCNQ2 science.
What You Will Find in These KCNQ2 Research Updates
This page includes short summaries of newly published research articles, early clinical insights, and scientific developments related to the KCNQ2 gene and Kv7.2 channels. Each note links to the original source so you can learn more about the findings and how they relate to KCNQ2-DEE. You can also explore the published scientific literature on KCNQ2 through trusted sources such as PubMed.
Who These KCNQ2 Updates Are For
Q2 Quick Notes is designed for families seeking clear explanations of complex medical studies, clinicians seeking quick updates, and researchers following advancements in genetic epilepsies.
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Q2 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…
Q2 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…
Q2 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…
Q2 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…
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…
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…
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…
Q2 Quick Note #03: Bexicaserin Reduces Seizures in Multiple Types of DEEs
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 Note #02: Genetic Testing Finds Four People with KCNQ2 Variants in 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.