iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity
Lauren E. Rylaarsdam, Jennifer Rakotomamonjy, Eleanor G. Pope, Alicia Guemez‐Gamboa
This study uses iPSC-derived neurons to show that the PACS1 p.R203W variant causes synaptic signaling deficits and prolonged neuronal network bursts in human neurons.
Nature Communications · Jan 27, 2024Peer-reviewedNeuroscience