Maria I. Olivero-Acosta

Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids

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

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical Organoids

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.

Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated Scn2a-deficiency

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

Human iPSC-derived microglia sense and dampen hyperexcitability of cortical neurons carrying the epilepsy-associated SCN2A-L1342P mutation

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.

Severe deficiency of voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice

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.

Sodium channel Nav1.2-L1342P variant displaying complex biophysical properties renders hyperexcitability of cortical neurons derived fromhuman iPSCs

This study investigates the effects of the SCN2A L1342P variant in human iPSC-derived neurons, showing increased excitability and resistance to phenytoin, but responsiveness to PTx3.