Snezana Maljevic

This study investigates SYNGAP1 haploinsufficiency in human patient-derived models, showing disrupted early neurodevelopment and accelerated neuronal maturation.

This study investigates the developmental impact of KCNQ2 loss-of-function variants in patient iPSC-derived neurons, showing reduced M-currents and disrupted oscillatory activity linked to developmental delay and seizures.

This study uses patient-derived iPSC spheroids to model SCN1A Dravet Syndrome, revealing dysregulated developmental processes and predicting drug response to fenfluramine.

This study creates a mouse model of mosaic Slc35a2 knockout to study its impact on cortical development and epilepsy-related traits.

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.

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.