Neel H. Mehta

Microglial GRB2 is essential for brain ventriculogenesis and CSF homeostasis.

Microglia play essential yet poorly understood roles in brain development, including axon guidance, regulation of neurogenesis, and pruning of neuronal projections. Congenital hydrocephalus (CH), characterized by enlarged cerebrospinal fluid (CSF)-filled ventricles, is a leading cause of pediatric brain surgery, but it...

Chiari I Malformation as a Human Disease Model of Cerebellar Cognitive–Affective Dysfunction

De novo chromatin remodelling variants in sporadic Chiari 1 malformation.

Exome sequencing may complement surgical evaluation of children with sporadic CM1, particularly when accompanied by neurodevelopmental concerns, informing prognosis and family counseling, and implicating genetically encoded dysregulation of cerebellar development as a central disease mechanism.