{"id":"https://openalex.org/W2005809131","doi":"https://doi.org/10.1126/science.1224631","title":"Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy","display_name":"Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy","publication_year":2012,"publication_date":"2012-09-06","ids":{"openalex":"https://openalex.org/W2005809131","doi":"https://doi.org/10.1126/science.1224631","mag":"2005809131","pmid":"https://pubmed.ncbi.nlm.nih.gov/22956686"},"language":"en","primary_location":{"id":"doi:10.1126/science.1224631","doi":"https://doi.org/10.1126/science.1224631","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.1224631","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://scholarworks.indianapolis.iu.edu/bitstreams/9ed21183-6701-49ec-864d-df3d63ee564a/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049497512","display_name":"Gaia Novarino","orcid":"https://orcid.org/0000-0002-7673-7178","observed_orcids":["https://orcid.org/0000-0002-7673-7178"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Gaia Novarino","raw_affiliation_strings":["Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067512684","display_name":"Paul El-Fishawy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Paul El-Fishawy","raw_affiliation_strings":["Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA","2Child Study Center, Yale University School of Medicine, New Haven, CT, 06520, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Child Study Center, Yale University School of Medicine, New Haven, CT, 06520, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026370929","display_name":"H\u00fclya Kayserili","orcid":"https://orcid.org/0000-0003-0376-499X","observed_orcids":["https://orcid.org/0000-0003-0376-499X","https://orcid.org/0000-0002-9563-3884"]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]},{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Hulya Kayserili","raw_affiliation_strings":["Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Faith/Istanbul, Turkey","3Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Faith/Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Faith/Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]},{"raw_affiliation_string":"3Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Faith/Istanbul, Turkey","institution_ids":["https://openalex.org/I4210112471","https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000170954","display_name":"Nagwa A. Meguid","orcid":"https://orcid.org/0000-0002-7962-2501","observed_orcids":["https://orcid.org/0000-0002-7962-2501"]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Nagwa A. Meguid","raw_affiliation_strings":["Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]},{"raw_affiliation_string":"4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056526906","display_name":"Eric Scott","orcid":"https://orcid.org/0000-0001-7301-0152","observed_orcids":["https://orcid.org/0000-0001-7301-0152","https://orcid.org/0000-0002-2730-0893"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric M. Scott","raw_affiliation_strings":["Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053744782","display_name":"Jana Schroth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jana Schroth","raw_affiliation_strings":["Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108610447","display_name":"Jennifer L. Silhavy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer L. Silhavy","raw_affiliation_strings":["Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062745533","display_name":"Majdi Kara","orcid":"https://orcid.org/0000-0002-7899-1567","observed_orcids":["https://orcid.org/0000-0002-7899-1567"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Majdi Kara","raw_affiliation_strings":["Pediatric Department, Tripoli Children\u2019s Hospital, Tripoli, Libya"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Department, Tripoli Children\u2019s Hospital, Tripoli, Libya","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113777760","display_name":"Rehab O. Khalil","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Rehab O. Khalil","raw_affiliation_strings":["Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]},{"raw_affiliation_string":"4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040633590","display_name":"Tawfeg Ben\u2010Omran","orcid":"https://orcid.org/0000-0001-8522-7738","observed_orcids":["https://orcid.org/0000-0001-8522-7738","https://orcid.org/0000-0002-8627-930X"]},"institutions":[{"id":"https://openalex.org/I49828101","display_name":"Hamad Medical Corporation","ror":"https://ror.org/02zwb6n98","country_code":"QA","type":"nonprofit","lineage":["https://openalex.org/I49828101"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Tawfeg Ben-Omran","raw_affiliation_strings":["Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar","6Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar","institution_ids":["https://openalex.org/I49828101"]},{"raw_affiliation_string":"6Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar","institution_ids":["https://openalex.org/I49828101"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017219568","display_name":"A. Gulhan Ercan\u2010Sencicek","orcid":"https://orcid.org/0000-0003-2838-3341","observed_orcids":["https://orcid.org/0000-0003-2838-3341"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Gulhan Ercan-Sencicek","raw_affiliation_strings":["Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073031108","display_name":"Adel F. Hashish","orcid":"https://orcid.org/0000-0001-9549-2973","observed_orcids":["https://orcid.org/0000-0001-9549-2973"]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Adel F. Hashish","raw_affiliation_strings":["Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]},{"raw_affiliation_string":"4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049906252","display_name":"Stephan Sanders","orcid":"https://orcid.org/0000-0001-9112-5148","observed_orcids":["https://orcid.org/0000-0001-9112-5148"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephan J. Sanders","raw_affiliation_strings":["Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110907896","display_name":"Abha R. Gupta","orcid":"https://orcid.org/0000-0001-8030-0078","observed_orcids":["https://orcid.org/0000-0001-8030-0078"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Abha R. Gupta","raw_affiliation_strings":["Child Study Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA","8Child Study Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Child Study Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"8Child Study Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039568552","display_name":"Hebatalla S. Hashem","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Hebatalla S. Hashem","raw_affiliation_strings":["Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]},{"raw_affiliation_string":"4Department of Research on Children with Special Needs, National Research Centre, Cairo, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040468813","display_name":"Dietrich Matern","orcid":"https://orcid.org/0000-0001-6298-4138","observed_orcids":["https://orcid.org/0000-0001-6298-4138"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dietrich Matern","raw_affiliation_strings":["Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA","9Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"9Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061030489","display_name":"Stacey Gabriel","orcid":"https://orcid.org/0000-0001-6939-2215","observed_orcids":["https://orcid.org/0000-0001-6939-2215"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I63966007","display_name":"Massachusetts Institute of Technology","ror":"https://ror.org/042nb2s44","country_code":"US","type":"education","lineage":["https://openalex.org/I63966007"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stacey Gabriel","raw_affiliation_strings":["Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA","10Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"10Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I107606265","https://openalex.org/I63966007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034364958","display_name":"Larry Sweetman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Larry Sweetman","raw_affiliation_strings":["Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA","11Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA","institution_ids":[]},{"raw_affiliation_string":"11Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045123175","display_name":"Yasmeen Rahimi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110049","display_name":"Richard L. Roudebush VA Medical Center","ror":"https://ror.org/01zpmbk67","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210110049","https://openalex.org/I4210127612","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yasmeen Rahimi","raw_affiliation_strings":["Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","12Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","institution_ids":["https://openalex.org/I4210110049","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"12Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","institution_ids":["https://openalex.org/I4210110049","https://openalex.org/I4394709130","https://openalex.org/I55769427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086617626","display_name":"Robert A. Harris","orcid":"https://orcid.org/0000-0003-3108-4748","observed_orcids":["https://orcid.org/0000-0003-3108-4748"]},"institutions":[{"id":"https://openalex.org/I4210110049","display_name":"Richard L. Roudebush VA Medical Center","ror":"https://ror.org/01zpmbk67","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210110049","https://openalex.org/I4210127612","https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert A. Harris","raw_affiliation_strings":["Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","12Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","institution_ids":["https://openalex.org/I4210110049","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"12Roudebush VA Medical Center and Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA","institution_ids":["https://openalex.org/I4210110049","https://openalex.org/I4394709130","https://openalex.org/I55769427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010207238","display_name":"Matthew W. State","orcid":"https://orcid.org/0000-0003-1624-8302","observed_orcids":["https://orcid.org/0000-0003-1624-8302"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew W. State","raw_affiliation_strings":["Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"7Program on Neurogenetics, Child Study Center, Department of Psychiatry and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016278872","display_name":"Joseph G. Gleeson","orcid":"https://orcid.org/0000-0002-0889-9220","observed_orcids":["https://orcid.org/0000-0002-0889-9220","https://orcid.org/0000-0002-6713-8018"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Joseph G. Gleeson","raw_affiliation_strings":["Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I36258959"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5016278872","https://openalex.org/A5049497512","https://openalex.org/A5067512684"],"corresponding_institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I32971472","https://openalex.org/I36258959"],"apc_list":null,"apc_paid":null,"fwci":12.4084,"has_fulltext":true,"cited_by_count":320,"citation_normalized_percentile":{"value":0.99325855,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"338","issue":"6105","first_page":"394","last_page":"397"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.5332000255584717,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.5332000255584717,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.33570000529289246,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.09040000289678574,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/bckdk","display_name":"BCKDK","score":0.8109999895095825},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.8899999856948853},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.8059999942779541},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":1.0},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.8389999866485596},{"id":"https://openalex.org/keywords/branched-chain-amino-acids","display_name":"branched-chain amino acids","score":0.843999981880188},{"id":"https://openalex.org/keywords/branched-chain-alpha-keto-acid-dehydrogenase","display_name":"branched-chain ketoacid dehydrogenase","score":0.9470000267028809},{"id":"https://openalex.org/keywords/dietary-supplementation","display_name":"dietary supplementation","score":0.8610000014305115},{"id":"https://openalex.org/keywords/neurobehavioral-deficits","display_name":"neurobehavioral deficits","score":0.7409999966621399},{"id":"https://openalex.org/keywords/brain-amino-acid-metabolism","display_name":"brain amino acid metabolism","score":0.6370000243186951}],"concepts":[{"id":"https://openalex.org/C2777573094","wikidata":"https://www.wikidata.org/wiki/Q483752","display_name":"Valine","level":3,"score":0.8140478730201721},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.6660635471343994},{"id":"https://openalex.org/C2776580952","wikidata":"https://www.wikidata.org/wiki/Q483745","display_name":"Leucine","level":3,"score":0.6189745664596558},{"id":"https://openalex.org/C2777305461","wikidata":"https://www.wikidata.org/wiki/Q484940","display_name":"Isoleucine","level":4,"score":0.6119464635848999},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6086388230323792},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.596509575843811},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5911572575569153},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5261435508728027},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.5226519107818604},{"id":"https://openalex.org/C184235292","wikidata":"https://www.wikidata.org/wiki/Q421851","display_name":"Kinase","level":2,"score":0.5098313689231873},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5061931014060974},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5053630471229553},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4840211570262909},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.40735483169555664},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21345162391662598},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.08182910084724426},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.08036988973617554}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D000597","descriptor_name":"Amino Acids, Branched-Chain","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001120","descriptor_name":"Arginine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001120","descriptor_name":"Arginine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001120","descriptor_name":"Arginine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004032","descriptor_name":"Diet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004032","descriptor_name":"Diet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004032","descriptor_name":"Diet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017434","descriptor_name":"Protein Structure, Tertiary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017434","descriptor_name":"Protein Structure, Tertiary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017434","descriptor_name":"Protein Structure, Tertiary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1126/science.1224631","doi":"https://doi.org/10.1126/science.1224631","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.1224631","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},{"id":"pmid:22956686","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22956686","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science (New York, N.Y.)","raw_type":"Journal Article"},{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/48934","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1805/48934","pdf_url":"https://scholarworks.indianapolis.iu.edu/bitstreams/9ed21183-6701-49ec-864d-df3d63ee564a/download","source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PMC","raw_type":"Article"},{"id":"pmh:oai:europepmc.org:2699251","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3704165","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3704165","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3704165","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Science","raw_type":"Text"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt5k0515dj","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/5k0515dj","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Science, vol 338, iss 6105","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/48934","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1805/48934","pdf_url":"https://scholarworks.indianapolis.iu.edu/bitstreams/9ed21183-6701-49ec-864d-df3d63ee564a/download","source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PMC","raw_type":"Article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/2","display_name":"Zero hunger","score":0.7099999785423279}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1561169380","display_name":"Doublecortin in Neuronal Migration","funder_award_id":"R01NS041537","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G1609525565","display_name":null,"funder_award_id":"U54-HG003067","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G1913094096","display_name":"Molecular Characterization of Joubert Syndrome","funder_award_id":"R01NS048453","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2851032130","display_name":null,"funder_award_id":"P01 HD070494","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3298836012","display_name":"Genomic Profiling and Functional Mutation Analysis in Autism Spectrum Disorders","funder_award_id":"RC2MH089956","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G4353801355","display_name":null,"funder_award_id":"K08MH087639","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G5440146302","display_name":null,"funder_award_id":"R25 MH077823","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G6196018718","display_name":"University of California San Diego Neuroscience Microscopy Imaging Core","funder_award_id":"P30NS047101","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G639426234","display_name":null,"funder_award_id":"P30 NS047101","funder_id":"https://openalex.org/F4320332603","funder_display_name":"University of California, San Diego"},{"id":"https://openalex.org/G770899802","display_name":null,"funder_award_id":"U54HG003067","funder_id":"https://openalex.org/F4320314070","funder_display_name":"Broad Institute"},{"id":"https://openalex.org/G8215682207","display_name":null,"funder_award_id":"T32 MH018268","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G9000005430","display_name":null,"funder_award_id":"T32 MH018268","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000022338","display_name":null,"funder_award_id":"U54 HG003067","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000125788","display_name":null,"funder_award_id":"P01HD070494","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306082","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90"},{"id":"https://openalex.org/F4320307758","display_name":"Eli Lilly and Company","ror":"https://ror.org/01qat3289"},{"id":"https://openalex.org/F4320307765","display_name":"Pfizer","ror":"https://ror.org/01xdqrp08"},{"id":"https://openalex.org/F4320308380","display_name":"Yale University","ror":"https://ror.org/03v76x132"},{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320315641","display_name":"Halozyme","ror":"https://ror.org/001x5ea44"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332603","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48"},{"id":"https://openalex.org/F4320333645","display_name":"Pfizer Pharmaceuticals","ror":"https://ror.org/02bzf1224"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2005809131.pdf","grobid_xml":"https://content.openalex.org/works/W2005809131.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W1593109390","https://openalex.org/W1908039135","https://openalex.org/W1953493409","https://openalex.org/W1966008305","https://openalex.org/W1980309199","https://openalex.org/W1984044473","https://openalex.org/W2016701287","https://openalex.org/W2019243633","https://openalex.org/W2035121417","https://openalex.org/W2060658903","https://openalex.org/W2066555189","https://openalex.org/W2074078425","https://openalex.org/W2114408926","https://openalex.org/W2114570899","https://openalex.org/W2121262376","https://openalex.org/W2121531763","https://openalex.org/W2123739801","https://openalex.org/W2129032286","https://openalex.org/W2129219544","https://openalex.org/W2133877762","https://openalex.org/W2142157313","https://openalex.org/W2144019683","https://openalex.org/W2144446993","https://openalex.org/W2146394845","https://openalex.org/W2151287401","https://openalex.org/W2154172784","https://openalex.org/W2158798074","https://openalex.org/W2168133698","https://openalex.org/W2168533782","https://openalex.org/W2477136658"],"related_works":["https://openalex.org/W3135453464","https://openalex.org/W2067852468","https://openalex.org/W1951002276","https://openalex.org/W1786140562","https://openalex.org/W1907722009","https://openalex.org/W2049497674","https://openalex.org/W2027469957","https://openalex.org/W2412613989","https://openalex.org/W2248030429","https://openalex.org/W2064436044"],"abstract_inverted_index":{"Autism":[0],"spectrum":[1],"disorders":[2],"are":[3],"a":[4,113],"genetically":[5],"heterogeneous":[6],"constellation":[7],"of":[8,54,58],"syndromes":[9],"characterized":[10],"by":[11,109],"impairments":[12],"in":[13,28,37,70],"reciprocal":[14],"social":[15],"interaction.":[16],"Available":[17],"somatic":[18],"treatments":[19],"have":[20,24],"limited":[21],"efficacy.":[22],"We":[23],"identified":[25],"inactivating":[26],"mutations":[27,67,111],"the":[29,55],"gene":[30],"BCKDK":[31,66,71,110],"(Branched":[32],"Chain":[33],"Ketoacid":[34],"Dehydrogenase":[35],"Kinase)":[36],"consanguineous":[38],"families":[39],"with":[40,64,103],"autism,":[41],"epilepsy,":[42],"and":[43,74,78,92,106],"intellectual":[44,104],"disability.":[45],"The":[46],"encoded":[47],"protein":[48],"is":[49],"responsible":[50],"for":[51],"phosphorylation-mediated":[52],"inactivation":[53],"E1\u03b1":[56,76],"subunit":[57],"branched-chain":[59,80],"ketoacid":[60],"dehydrogenase":[61],"(BCKDH).":[62],"Patients":[63],"homozygous":[65],"display":[68],"reductions":[69],"messenger":[72],"RNA":[73],"protein,":[75],"phosphorylation,":[77],"plasma":[79],"amino":[81,89],"acids.":[82],"Bckdk":[83],"knockout":[84],"mice":[85],"show":[86],"abnormal":[87],"brain":[88],"acid":[90],"profiles":[91],"neurobehavioral":[93],"deficits":[94],"that":[95],"respond":[96],"to":[97],"dietary":[98],"supplementation.":[99],"Thus,":[100],"autism":[101],"presenting":[102],"disability":[105],"epilepsy":[107],"caused":[108],"represents":[112],"potentially":[114],"treatable":[115],"syndrome.":[116]},"counts_by_year":[{"year":2026,"cited_by_count":11},{"year":2025,"cited_by_count":15},{"year":2024,"cited_by_count":19},{"year":2023,"cited_by_count":20},{"year":2022,"cited_by_count":26},{"year":2021,"cited_by_count":26},{"year":2020,"cited_by_count":28},{"year":2019,"cited_by_count":19},{"year":2018,"cited_by_count":32},{"year":2017,"cited_by_count":23},{"year":2016,"cited_by_count":18},{"year":2015,"cited_by_count":22},{"year":2014,"cited_by_count":23},{"year":2013,"cited_by_count":31},{"year":2012,"cited_by_count":5}],"updated_date":"2026-10-22T09:42:04.148104","created_date":"2016-06-24T00:00:00"}
