Excerpt Researchers reviewed medical records of 30 individuals with KCNQ2 variants, looking for patterns in their seizures, development, and genotypes. What It’s About Most people in this study had their…

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…

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…

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…

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…

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…

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…

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…

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…

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…