Gene Mutations May Lead to Rare Brain Asymmetry

Hemimegalencephaly is a rare condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though it frequently is diagnosed in children with severe epilepsy, the disease’s causes remain unknown. Current treatment is radical: surgical removal of some or all the diseased half of the brain.

A team of doctors and scientists, led by researchers at the University of California, San Diego School of Medicine and the Howard Hughes Medical Institute, now say de novo somatic mutations in a trio of genes that help regulate cell size and proliferation may be a cause of hemimegalencephaly. That’s according to a paper published in the June 24, 2012, online issue of Nature Genetics.  For more information, click here to read the full release.