Cell BiologyProceedings of the National Academy of SciencesPeer-reviewed
A KCNC1 Variant Linked to Rett Syndrome Disrupts ER to Golgi Trafficking of Kv3.1 Channel
Diego Maureira, Carla Rubilar, Joaquín López…·Oscar Cerda
This study identifies a KCNC1 variant linked to Rett syndrome that disrupts ER to Golgi trafficking of Kv3.1 channels, affecting neuronal excitability.
DOI 10.1073/pnas.2424514123