Topic: polymicrogyria

The brain is comprised of a remarkable cell-type diversity, which arises during embryonic and fetal development from neural stem cells and provides the basis for proper brain function. Production errors in the tightly orchestrated process of brain development can result in neurodevelopmental malformations. Alterations in the mTOR pathway result in a spectrum of defects ranging from focal cortical dysplasia to hemimegalencephaly (HME). HME is a rare disorder, characterized by the enlargement of one hemisphere. To date, a detailed cellular and molecular understanding of the neuropathological und

The cerebral cortex development is a process that involves the coordinated sequence of neural progenitor proliferation, neuronal differentiation and migration. Possible dysregulation of such processes results in malformations of cortical development (MCDs), such as periventricular heterotopias and polymicrogyria, which are characterized by morphological and functional cerebral complications. MCDs can be caused either by genetic or environmental factors. In this project, we selected to study a centriole and centriolar satellite gene, reported mutated in a patient with extensive polymicrogyria a