Open access
Oct 2026
Dystonia in a Timothy syndrome mouse model uncovers an interaction between Ca2+ and metabolism.
The hypothesized cellular and molecular mechanisms underlying dystonia are broad and include mutations that perturb Ca2+ signaling, including those affecting voltage gated calcium channels (VGCC). In mice, pharmacological activation of neuronal L-type VGCCs induces dystonia in a dose dependent manner. Here we demonstra...
Patrick Towers, Hong-Gang Wang, Maiko Matsui et al.
· JCI Insight · 0 citations