Ben Rollo

The paper investigates REST and RCOR gene expression in human neurons and astrocytes using 2D and 3D stem cell models, finding cell-type-specific expression patterns.

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.

The paper demonstrates that in vitro neurons can learn and exhibit goal-directed behavior in a simulated game environment.

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

This study shows that reducing SCN2A function with an antisense oligonucleotide improves survival and behavior in a mouse model of early seizure onset DEE.