Genomic variants and variations in malformations of cortical development

Abstract

Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes have been identified in patients with MCD. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These somatic mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic cause can help in guiding families in future pregnancies. Research has highlighted how elucidation of key molecular pathways can also allow for targeted therapeutic interventions.

Keywords: Cortical dysplasia; Genomic variants; Lissencephaly; Malformations of cortical development; Megalencephaly; Microcephaly; Polymicrogyria; Somatic mutation.