Study Reveals Key Mechanisms of a Rare Form of Epilepsy
*Featuring work by CURE Epilepsy Grantees, Drs. Edward Cooper and Jeffrey Noebels
New research is advancing the understanding of KCNQ2 encephalopathy. "KCNQ2 encephalopathy is a rare neurodevelopmental disorder caused by variants in the KCNQ2 gene, which provides the recipe for a type of brain potassium channel," explains lead author Timothy Abreo, a student in the Genetics and Genomics Graduate Program at Baylor College of Medicine, Houston, Texas, US. "The disorder usually manifests as seizures beginning within days after birth and developmental delays which are lifelong and without effective current treatment." Newly identified variants in the KCNQ2 gene are hard to assess because not every variant is disease-causing, and the reasons some variants lead to illness have been poorly understood.