KCNK18 c.1107del frameshift in peripheral neuropathy links TRESK dysfunction to neuropathic pain
Clara Rubio, Milena Ślęczkowska, Enric Pisa, Andrea Barbieri, Anna Pérez-González, Gerard Callejo, Margherita Marchi, Erika Salvi, Grazia Devigili, Janneke G. J. Hoeijmakers, Catharina Gerritdina Faber, Monique M. Gerrits, Hubert J.M. Smeets, Guillaume Sandoz, Xavier Gasull, Núria Comes
The paper identifies a frameshift mutation in KCNK18 causing TRESK dysfunction, linking it to neuropathic pain through haploinsufficiency and altered channel function.
bioRxiv · Dec 10, 2025 · PreprintNeuroscience