Xiaoling Chen

This study uses snRNA-seq to analyze gene expression changes in Scn2a-deficient mice, identifying disrupted pathways in neuronal subtypes of the prefrontal cortex.

This study investigates the effects of the SCN2A-L1342P mutation in human cortical organoids, finding increased neuronal excitability, enhanced synaptic transmission, and transcriptomic changes related to synaptic and developmental pathways.

This study uses brain organoids and assembloids with microglia to show region-specific microglial diversity and their response to SCN2A mutation-induced neuronal hyperactivity.

This paper shows that gene therapies can reduce absence seizures in DBA/2J mice with Scn2a deficiency by restoring NaV1.2 or introducing human KV1.1.

This study uses vascularized neuroimmune organoids to model sporadic Alzheimer's disease and test drug efficacy.

This study shows that restoring NaV1.2 expression in adulthood rescues social deficits and improves neuronal signal-to-noise ratio in Scn2a-deficient mice.

This study shows human iPSC-derived microglia detect and reduce hyperexcitability in neurons with the SCN2A-L1342P epilepsy mutation through morphological and calcium changes and reduced sodium channel current density.

This study shows that severe NaV1.2 deficiency increases neuronal excitability in adult mice, challenging the current understanding of its role in autism and epilepsy.

This paper characterizes a Scn2a gene trap knockout mouse model with reduced Nav1.2 expression, showing behavioral and physiological abnormalities associated with Scn2a deficiency.