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

Published October 19, 2012 in Science

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

http://www.ncbi.nlm.nih.gov/pubmed/22956686

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