A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel - PubMed
7 hours ago
- #channelopathy
- #Rett syndrome
- #KCNC1
- A KCNC1 variant (S474C) is linked to Rett syndrome and disrupts ER to Golgi trafficking of Kv3.1 channels.
- Kv3.1S474C reduces channel presence in the plasma membrane and is retained in the endoplasmic reticulum.
- Expression of Kv3.1S474C in murine primary cortical neurons leads to reduced neuronal firing frequency and exclusion from the axon initial segment.
- A computational neuronal model confirmed decreased firing frequency with Kv3.1S474C.
- The study highlights the importance of the S474 residue in Kv3.1 channel trafficking and neuronal function.