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…

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…

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…

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.…