In vivo characterization of a patient CACNA1A variant reveals paradoxical synaptic effects
Michael B Krawchuk, Araven Tiroumalechetty, Maximiliano Zuluaga-Forero…·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.