Mutations in BCKD-kinase Lead to a Potentially Treatable form of Autism with Epilepsy.

Source: 
Science
Date Published: 
Oct. 19, 2012
Abstract: 

Researchers identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.