A. Gélot

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.

Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

This study shows that MLC1 is essential for postnatal development of the gliovascular unit, leading to vascular and fluid clearance defects in a mouse model of megalencephalic leukoencephalopathy.

In mice and humans, the brain's blood vessels mature postnatally to acquire barrier and contractile properties

The paper compares molecular and functional maturation of brain vascular cells in mice and humans during postnatal development, identifying key markers and processes in endothelial and vascular smooth muscle cells.

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.