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…

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…

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.

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.

A new study involving 53 parents of children with KCNQ2-DEE highlights that communication challenges, cognitive delays, and daily living needs are often more burdensome than seizures. These insights help guide future treatments that focus on quality of life, not just seizure reduction.