Topic: CERS6

A de novo missense mutation in ceramide synthase 6 (CERS6) was identified by human exome sequencing in a patient with subcortical heterotopia. This is a rare disorder associated with epilepsy and intellectual disability, which may be caused by disturbances in cortical progenitors and /or migrating neurons. Ceramide synthases are important for the biogenesis of ceramides in the endoplasmic reticulum and mitochondria. These are then transferred to the Golgi apparatus for the formation of complex sphingolipids, and in this form further transported to other cell membranes. The major aim of this pr