Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

Journal of Child Neurology

Volumn 30, Issue 8, 2015, Pages 1037-1043

  McMillan, Hugh J ^a   Humphreys, Peter ^a   Smith, Amanda ^a   Schwartzentruber, Jeremy ^b   Chakraborty, Pranesh ^a   Bulman, Dennis E ^a   Beaulieu, Chandree L ^a   Majewski, Jacek ^c   Boycott, Kym M ^a   Geraghty, Michael T ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

aminoacyl tRNA; epilepsy; lysyl tRNA synthetase; microcephaly; vision disorders

Indexed keywords

7 DEHYDROCHOLESTEROL; AMINO ACID TRANSFER RNA LIGASE; CREATINE KINASE; CYANOCOBALAMIN; GLUTAMINE TRANSFER RNA LIGASE; LACTIC ACID; LYSINE TRANSFER RNA LIGASE; PHENOBARBITAL; TRANSFERRIN; VALPROIC ACID; VERY LONG CHAIN FATTY ACID;

AMINO ACID BLOOD LEVEL; ANKLE FOOT ORTHOSIS; ARTICLE; BIRTH WEIGHT; CASE REPORT; CHILD; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSUM; CREATINE KINASE BLOOD LEVEL; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; EXOME; EYE EXAMINATION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GROWTH RATE; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEARING TEST; HUMAN; HYPOPLASIA; LACTATE BLOOD LEVEL; MALE; MASTICATION; MEDICAL ASSESSMENT; MICROCEPHALY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; TRANSFERRIN BLOOD LEVEL; VISUAL IMPAIRMENT; WHITE MATTER; COMPLICATION; DISEASE COURSE; GENETICS; LONGITUDINAL STUDY; MUTATION; NUCLEOTIDE SEQUENCE; VISION DISORDERS;

CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; HUMANS; LONGITUDINAL STUDIES; LYSINE-TRNA LIGASE; MALE; MICROCEPHALY; MUTATION; PHENOTYPE; VISION DISORDERS;

EID: 84931829244     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073814553272     Document Type: Article

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