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A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.
Chan, Denise L; Rudinger-Thirion, Joëlle; Frugier, Magali; Riley, Lisa G; Ho, Gladys; Kothur, Kavitha; Mohammad, Shekeeb S.
Afiliação
  • Chan DL; Neurology Department, Sydney Children's Hospital, Sydney, Australia, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Australia.
  • Rudinger-Thirion J; Université de Strasbourg, CNRS,Architecture et Réactivité de l'ARN, UPR 9002, F-67000, Strasbourg, France.
  • Frugier M; Université de Strasbourg, CNRS,Architecture et Réactivité de l'ARN, UPR 9002, F-67000, Strasbourg, France.
  • Riley LG; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network & Children's Medical Research Institute, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia, Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 200
  • Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia, Discipline of Child & Adolescent Health, Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia; Children's Hospital at Westmead Clinical School, Faculty of Me
  • Kothur K; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
  • Mohammad SS; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia, Kids Neuroscience Centre, Kids Research, The Children's
Brain Dev ; 44(2): 142-147, 2022 Feb.
Article em En | MEDLINE | ID: mdl-34774383
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Aminoacil-tRNA Sintetases Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Aminoacil-tRNA Sintetases Idioma: En Ano de publicação: 2022 Tipo de documento: Article