Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

doi:10.1126/science.1224631

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Article

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Science (New York, N.Y.) - 19 Oct 2012

Novarino Gaia, El-Fishawy Paul, Kayserili Hulya, Meguid Nagwa A, Scott Eric M, Schroth Jana, Silhavy Jennifer L, Kara Majdi, Khalil Rehab O, Ben-Omran Tawfeg, Ercan-Sencicek A Gulhan, Hashish Adel F, Sanders Stephan J, Gupta Abha R, Hashem Hebatalla S, Matern Dietrich, Gabriel Stacey, Sweetman Larry, Rahimi Yasmeen, Harris Robert A, State Matthew W, Gleeson Joseph G

Abstract excerpt

Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is...

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Identifiers

PMID: 22956686
DOI: 10.1126/science.1224631
PMCID: PMC3704165

Genes

BCKDK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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