Mathieu Milh

This study applies SPANGY to fetal MRI data to quantify cortical folding patterns, revealing the temporal sequence of low-to-high frequency fold emergence during prenatal development.

This study examines the developmental stage-dependent effects of Munc18.1 deficiency on neuronal excitability and synaptic transmission in STXBP1 heterozygous mice.

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

This study shows that lower-quality fetal MRI scans systematically bias normative centile estimates in brain development models, particularly affecting outer centiles.

This paper combines fetal and postnatal MRI data to analyze neurodevelopmental trajectories during the perinatal transition, identifying continuous and discontinuous changes in brain features.

This study demonstrates that gene therapy targeting GluK2 reduces seizures in TLE models and patient-derived slices.

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

This study investigates the developmental changes in neuronal activity in a KCNQ2 knock-in mouse model, finding time-limited alterations in excitability and M-current density that resolve with maturation.