Manasi Suchit Halurkar

This study shows that inducing Kv1.1 expression in Scn2a-deficient mice reduces neuronal hyperexcitability and improves sociability without affecting wild-type mice.

This study shows that SCN2A deficiency in human brain assembloids disrupts cortico-striatal circuitry by impairing axonal projections and synaptic transmission, leading to hyperexcitability.

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 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 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.

The paper analyzes the Ucp1-CreEvdr transgenic mouse line and finds it causes complex developmental and metabolic issues independent of its intended genetic manipulation.