Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathy
Miaomiao Mao, Cristiana Mattei, Ben Rollo, Sean Byars, Claire Cuddy, Géza Berecki, Jacqueline Heighway, Svenja Pachernegg, Trevelyan R. Menheniott, Danielle Apted, Linghan Jia, Kelley Dalby, Alex Nemiroff, Saul Alator Mullen, Christopher A. Reid, , Steven Petrou
This study compares iPSC-derived neurons from patients with gain- and loss-of-function SCN2A variants, finding distinct electrophysiological and transcriptomic changes associated with different disease presentations.
bioRxiv · Feb 14, 2023 · PreprintNeuroscience