A decade ago, a family searching for answers to their child's mysterious diagnosis of "KCNQ2" found the lab of Dr. Edward C. Cooper, associate professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine. Today, that family is part of a new study that has identified disease-causing mechanisms responsible for the rare form of epilepsy their daughter lives with.
The research, published today as a Reviewed Preprint in eLife, helps to advance understanding of why and how variants in KCNQ2 cause this neurodevelopmental disorder.
"KCNQ2 encephalopathy includes a spectrum of neurodevelopmental impairments caused by different variants in the KCNQ2 gene. KCNQ2 provides the recipe for a type of brain potassium channel," said lead author Timothy Abreo, a student in the Genetics and Genomics Graduate Program at Baylor. "The disorder usually manifests as seizures beginning within days after birth and developmental delays, which are lifelong and without current effective treatment."
