Serena Pozzi

Publications

2026

Pei Xin Boon, Amaia Jauregi-Miguel, Sümeyye Süheda Yasarbas, Serena Pozzi, Urban Karlsson, Ammar Husami, Charmaine Ko, Amelle Shillington, Antonios Pantazis (2026) Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans Journal of Physiology, Vol. 604, p. 3413-3430 (Article in journal) https://dx.doi.org/10.1113/jp290728

Pei Xin Boon, Amaia Jauregi Miguel, Sümeyye Süheda Yasarbas, Serena Pozzi, Urban Karlsson, Ammar Husami, Charmaine Ko, Amelle Shillington, Antonios Pantazis (2026) Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans Journal of Physiology (Article in journal) https://dx.doi.org/10.1113/JP290728

Mario Nappi, Damon Frampton, Ali Kusay, Kaiqian Wang, Sümeyye Süheda Yasarbas, Serena Pozzi, Francesco Miceli, Sara I. Liin, Maurizio Taglialatela, Antonios Pantazis (2026) Two-step voltage-sensor activation of the human K_V7.4 channel and effect of a deafness-associated mutation Nature Communications, Vol. 17, Article 2381 (Article in journal) https://dx.doi.org/10.1038/s41467-026-69249-8

2025

Marina Angelini, Nicoletta Savalli, Federica Steccanella, Savana Maxfield, Serena Pozzi, Marino DiFranco, Stephen C. Cannon, Antonios Pantazis, Riccardo Olcese (2025) The molecular transition that confers voltage dependence to muscle contraction Nature Communications, Vol. 16, Article 4847 (Article in journal) https://dx.doi.org/10.1038/s41467-025-59649-7

Pia Dahlberg, Serena Pozzi, Linda Bulmer, Alessia Golluscio, Michelle Nilsson, Anders Nygren, Peter Larsson, Antonios Pantazis, Anders Gummesson (2025) Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia Journal of Molecular and Cellular Cardiology, Vol. 203, p. 47-58 (Article in journal) https://dx.doi.org/10.1016/j.yjmcc.2025.04.001

2023

Teresa Mínguez‐Viñas, Varsha Prakash, Kaiqian Wang, Sarah Lindström, Serena Pozzi, Stuart A. Scott, Elizabeth Spiteri, David A. Stevenson, Euan A. Ashley, Cecilia Gunnarsson, Antonios Pantazis (2023) Two epilepsy‐associated variants in KCNA2 (K_V1.2) at position H310 oppositely affect channel functional expression Journal of Physiology, Vol. 601, p. 5367-5389 (Article in journal) https://dx.doi.org/10.1113/jp285052