Roy Ben‐Shalom

This study uses cortical organoids to model PPP2R5D mutations in Jordans Syndrome, identifying gene expression, protein, and electrophysiological changes linked to disease severity.

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

The paper creates a novel mouse model of KCNT1-related epilepsy carrying the G269S variant and demonstrates its phenotypic effects in vitro and in vivo.

This study investigates the distinct roles of NaV1.2 and NaV1.6 in neocortical pyramidal cell excitability using inhibitors and genetic modifications to selectively block each isoform.

This study investigates the effects of excess prenatal folic acid on mouse brain transcriptome and methylome, revealing altered gene expression and electrophysiological changes.

This paper investigates functional impairments in Syngap1 mutant mice, identifying translational biomarkers in both in vitro and in vivo neurophysiological data.

This paper investigates the effects of the SCN2A p.K1422E variant in mice, showing mixed functional and behavioral impacts on neurons and neurodevelopmental phenotypes.

NeuroGPU accelerates biophysically detailed neuronal simulations on GPUs, enabling faster parameter exploration and model fitting.

The paper shows that loss of NaV1.2 sodium channels in pyramidal neurons leads to hyperexcitability and seizures despite reduced action potential size and speed.

This paper uses CNNs to infer neuronal ionic conductances from simulated membrane potentials, achieving better accuracy than traditional optimization methods.

This study shows that the autism-associated gene Scn2a is critical for synaptic stability and learning by regulating dendritic excitability and synaptic function in neurons.