Massimo Mantegazza

An astro-neural-field model with application to cortical spreading depolarization

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.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

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.

Non-syndromic autism-associated SCN2A variants selectively exert dominant-negative effects on NaV1.2 channels.

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.

Long-lasting astrocyte remodeling in Dravet Syndrome Scn1a+/- mouse model.

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.

Sex-specific behavioral features of juvenile and adult haploinsufficient Scn2a+/- female mice, model of Autism Spectrum Disorder

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.

GABAergic neurons can facilitate the propagation of cortical spreading depolarization: experiments in mouse neocortical slices and a novel neural field computational model

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.

Neurodevelopmental defects in Dravet syndrome Scn1a+/- mice: targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality.

Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to Low-Voltage-Fast onset seizures in Dravet syndrome.

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

A python-based package for long-lasting video acquisition and semi-automated detection of convulsive seizures in rodents

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

Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eEF2K

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

GABAergic neurons and Nav1.1 channel hyperactivity: a novel neocortex-specific mechanism of cortical spreading depression.

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.

SULTA4A1 modulates synaptic development and function by promoting the formation of PSD-95/NMDAR complex

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.