Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Journal of Medical Genetics

Volumn 52, Issue 8, 2015, Pages 532-540

  Coughlin, Curtis R ^a   Scharer, Gunter H ^a,b,c   Friederich, Marisa W ^a   Yu, Hung Chun ^a   Geiger, Elizabeth A ^a   Creadon Swindell, Geralyn ^a   Collins, Abigail E ^a   Vanlander, Arnaud V ^d   Van Coster, Rudy ^d   Powell, Christopher A ^e   Swanson, Michael A ^a   Minczuk, Michal ^e   van Hove, Johan L K ^a   Shaikh, Tamim H ^a,b  

^a Nutrition Obesity Research Center at the University of Colorado   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINO ACID TRANSFER RNA LIGASE; CARS2 PROTEIN; CYSTEINE TRANSFER RNA; CYTOCHROME C OXIDASE; LIGASE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; POLYACRYLAMIDE GEL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; CYSTEINYL-TRNA SYNTHETASE 2 PROTEIN, HUMAN; TRANSFER RNA;

AMINOACYLATION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EPILEPSY; EXOME; FIBROBLAST; GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRACTABLE EPILEPSY; LIVER; MOTOR DYSFUNCTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RESPIRATORY CHAIN; SKELETAL MUSCLE; WESTERN BLOTTING; WILD TYPE; AMINO ACID SEQUENCE; BRAIN DISEASE; CASE REPORT; CHILD; DNA MUTATIONAL ANALYSIS; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; AMINO ACYL-TRNA SYNTHETASES; AMINOACYLATION; BRAIN DISEASES; CHILD; DNA MUTATIONAL ANALYSIS; EPILEPSY; EXOME; HUMANS; MALE; MOLECULAR SEQUENCE DATA; RNA, TRANSFER; SEQUENCE ALIGNMENT;

EID: 84940024310     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103049     Document Type: Article

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