Alfonso Represa

Inferring Ligand-Receptor Interactions between neuronal subtypes during mouse cortical development

The paper identifies ligand-receptor interactions between neuronal subtypes during mouse cortical development using single-cell transcriptomics and bioinformatic analysis.

Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C NMDA receptors

This study shows that a somatic MTOR variant in FCD type II causes hyperexcitability through overactivation of GluN2C NMDA receptors in rat neurons.

Distinct subtypes of grey matter heterotopia show subtype-specific morpho-electric neuronal properties and dynamics of epileptiform activity in mice

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats

This study investigates how early suppression of neuronal excitability in a rat model of subcortical band heterotopia affects epileptogenesis and seizure progression.

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

This study identifies NEUROD2 mutations linked to ASD and intellectual disability, showing their role in cortical development and function through mouse models.

Correct laminar positioning in the neocortex influences proper dendritic and synaptic development

This study shows that laminar positioning of cortical neurons affects dendritic and synaptic development, with misplaced neurons showing severe defects in dendrite and synapse formation.