Brain Mosaicism in Epileptogenic Cortical Malformations

Abstract This chapter focuses on focal cortical dysplasia type II (FCDII) and mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), a mild malformation of cortical development, for which genetic advances have been remarkable in recent years. There is now clear evidence that FCDII is caused by brain somatic mutations in genes belonging to the mTOR pathway, and that MOGHE, a mild malformation of cortical development, is due to somatic mutations in the SLC35A2 gene, encoding the major Golgi-localized UDP-galactose transporter. Numerous rodent models using the in utero electroporation procedure have been used to model FCDII and recapitulate most neuropathological and clinical features. This chapter discusses the recent advances in using cerebral organoids to model neurodevelopmental disorders.