NeurosciencebioRxivPreprint
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…·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.