A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel

Proceedings of the National Academy of Sciences, Volume 123, Issue 11, March 2026. <br/>SignificanceThe Kv3.1 channel-encoded by theKCNC1gene- is crucial for the high-frequency firing in neurons. This study characterizes a heterozygous variant inKCNC1(p.Ser474Cys) identified in a patient with classical Rett syndrome. This variant alters …