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

Science

Volumn 338, Issue 6105, 2012, Pages 394-397

  Novarino, Gaia ^a   El Fishawy, Paul ^b   Kayserili, Hulya ^c   Meguid, Nagwa A ^d   Scott, Eric M ^a   Schroth, Jana ^a   Silhavy, Jennifer L ^a   Kara, Majdi ^e   Khalil, Rehab O ^d   Ben Omran, Tawfeg ^f   Ercan Sencicek, A G ^b   Hashish, Adel F ^d   Sanders, Stephan J ^b   Gupta, Abha R ^b   Hashem, Hebatalla S ^d   Matern, Dietrich ^g   Gabriel, Stacey ^h   Sweetman, Larry ⁱ   Rahimi, Yasmeen ^j   Harris, Robert A ^j   State, Matthew W ^b   Gleeson, Joseph G ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e Tripoli Children's Hospital   (Libyan Arab Jamahiriya)

^f HAMAD MEDICAL CORPORATION   (Qatar)

^g MAYO CLINIC   (United States)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^j INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE; CYTOSINE; PHOSPHOTRANSFERASE; THYMINE; UNCLASSIFIED DRUG;

AMINO ACID; BRAIN; BRINE; ENZYME ACTIVITY; HETEROGENEITY; HOMOGENEITY; MUTATION; PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTISM; CHROMOSOME 16; CONTROLLED STUDY; EPILEPSY; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL;

MUS;

EID: 84867687830     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1224631     Document Type: Article

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