In vivo characterization of a patient CACNA1A variant reveals paradoxical synaptic effects
Michael B Krawchuk, Araven Tiroumalechetty, Maximiliano Zuluaga-Forero, Yongming Dong, Alexa Augustine, Nichelle Jackson, Joanna C. Jen, Heather D. Snell, Jihong Bai, David Conover Spray, Peri T. Kurshan
The paper characterizes a CACNA1A variant in a patient with mixed clinical symptoms, showing conflicting in vitro and in vivo effects that highlight the importance of cellular context.
bioRxiv · May 10, 2026 · PreprintNeuroscience