Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

Journal of Human Genetics

Volumn 60, Issue 2, 2015, Pages 97-101

  Kodera, Hirofumi ^a   Osaka, Hitoshi ^b,d   Iai, Mizue ^b   Aida, Noriko ^b   Yamashita, Akio ^c   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GLUTAMINE TRANSFER RNA LIGASE; TRANSFER RNA; AMINO ACID TRANSFER RNA LIGASE; GLUTAMINYL-TRNA SYNTHETASE;

AMINOACYLATION; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CLINICAL ARTICLE; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; GENE MUTATION; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARENT; PEDIGREE ANALYSIS; PROTEIN LOCALIZATION; SEIZURE; SIBLING; ADOLESCENT; BRAIN DISEASES; CASE REPORT; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; GENETICS; MUTATION;

ADOLESCENT; AGE OF ONSET; AMINO ACYL-TRNA SYNTHETASES; BRAIN DISEASES; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; FAMILY HEALTH; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SIBLINGS;

EID: 84938362180     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.103     Document Type: Article

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