Serena Pozzi
Doktorand
2026
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans
Journal of Physiology, Vol. 604, s. 3413-3430
(Artikel i tidskrift)
https://dx.doi.org/10.1113/jp290728
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans
Journal of Physiology
(Artikel i tidskrift)
https://dx.doi.org/10.1113/JP290728
Two-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation
Nature Communications, Vol. 17, Artikel 2381
(Artikel i tidskrift)
https://dx.doi.org/10.1038/s41467-026-69249-8
2025
The molecular transition that confers voltage dependence to muscle contraction
Nature Communications, Vol. 16, Artikel 4847
(Artikel i tidskrift)
https://dx.doi.org/10.1038/s41467-025-59649-7
Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia
Journal of Molecular and Cellular Cardiology, Vol. 203, s. 47-58
(Artikel i tidskrift)
https://dx.doi.org/10.1016/j.yjmcc.2025.04.001
2023
Two epilepsy‐associated variants in KCNA2 (KV1.2) at position H310 oppositely affect channel functional expression
Journal of Physiology, Vol. 601, s. 5367-5389
(Artikel i tidskrift)
https://dx.doi.org/10.1113/jp285052