Timothy J Abreo, Emma C Thompson ... Edward C Cooper
A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.
Angela L Rachubinski, Elizabeth Wallace ... Joaquín M Espinosa
Treatment with a JAK inhibitor normalizes multiple biomarkers of autoinflammation and provides therapeutic benefit for diverse immune skin conditions in individuals with Down syndrome.