Massimo Mantegazza

The paper introduces an astro-neural-field model to study cortical spreading depolarization, showing improved fit to experimental data and new insights into its mechanisms.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper investigates the functional impact of SCN2A variants associated with non-syndromic autism, finding that only non-syndromic ASD variants cause dominant-negative effects on Nav1.2 channels.

The paper examines astrocyte remodeling in a Scn1a+/− mouse model of Dravet Syndrome, finding long-lasting changes in GFAP expression, astrocyte network expansion, and impaired hemichannel function.

This study investigates sex-specific behavioral features in Scn2a+/- mice, showing females exhibit milder ASD-like traits compared to males, with differences in sociability, risk-taking, and reactivity.

This study investigates the role of GABAergic neurons in cortical spreading depolarization (CSD) propagation using experiments and a novel neural field model, finding that reduced GABAergic synaptic transmission enhances CSD propagation.

The paper investigates seizure mechanisms in Dravet syndrome, finding that preictal dysfunctions of inhibitory interneurons lead to rebound hyperactivity and low-voltage-fast seizures.

The paper introduces an open-source Python package for automated video acquisition and semi-automated detection of convulsive seizures in rodents with high accuracy.

This study shows that inhibiting eEF2K reduces seizures and behavioral issues in a Dravet syndrome mouse model by enhancing GABAergic transmission.

This study identifies a neocortex-specific mechanism of cortical spreading depression (CSD) initiated by hyperactivity of GABAergic neurons and NaV1.1 channel gain-of-function, linking it to Familial Hemiplegic Migraine type-3.

This study identifies SULT4A1 as a regulator of synaptic development and function by modulating dendritic morphology and NMDAR synaptic activity through its interaction with Pin1.