Malformations of cortical development

PI: Anna Jansen


Malformations of cortical development (MCD) are an important cause of intellectual disability, cerebral palsy and severe epilepsy. The most prevalent MCDs include lissencephaly/subcortical band heterotopia, polymicrogyria, periventricular heterotopia and focal cortical dysplasia. For the large majority of patients with MCDs, the exact etiology of their disorder is still unknown, leaving a considerable number of families not having access to counseling or prenatal diagnosis in order to prevent recurrence.