A KCNC1 Variant Linked to Rett Syndrome Disrupts ER to Golgi Trafficking of Kv3.1 Channel
Diego Maureira, Carla Rubilar, Joaquín López, Paola Santander, Hans J. Moldenhauer, Ian Silva, Pablo Cruz, Denise Riquelme, Javiera Baeza, Wendy González, Patricio Orio, Evrim Servili, Mónica Troncoso, Elías Leiva-Salcedo, 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.
Proceedings of the National Academy of Sciences · Mar 12, 2026Peer-reviewedCell Biology