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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner, Chiara; Fernández-Murray, J Pedro; Tavasoli, Mahtab; Sticht, Heinrich; Stoltenburg-Didinger, Gisela; Scholle, Leila Motlagh; Bakhtiari, Somayeh; Kruer, Michael C; Darvish, Hossein; Firouzabadi, Saghar Ghasemi; Pagnozzi, Alex; Shukla, Anju; Girisha, Katta Mohan; Narayanan, Dhanya Lakshmi; Kaur, Parneet; Maroofian, Reza; Zaki, Maha S; Noureldeen, Mahmoud M; Merkenschlager, Andreas; Gburek-Augustat, Janina; Cali, Elisa; Banu, Selina; Nahar, Kamrun; Efthymiou, Stephanie; Houlden, Henry; Jamra, Rami Abou; Williams, Jason; McMaster, Christopher R; Platzer, Konrad.
Afiliação
  • Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Fernández-Murray JP; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia B3N 0A1, Canada.
  • Tavasoli M; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia B3N 0A1, Canada.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91058 Erlangen, Germany.
  • Stoltenburg-Didinger G; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
  • Scholle LM; Department of Neurology, University of Halle/S., 06120 Halle, Germany.
  • Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona 85004, USA.
  • Kruer MC; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona 85004, USA.
  • Darvish H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona 85004, USA.
  • Firouzabadi SG; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona 85004, USA.
  • Pagnozzi A; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
  • Shukla A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Girisha KM; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane, QLD 4029, Australia.
  • Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Maroofian R; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Zaki MS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Noureldeen MM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Merkenschlager A; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Gburek-Augustat J; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
  • Cali E; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, 04103 Leipzig, Germany.
  • Banu S; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, 04103 Leipzig, Germany.
  • Nahar K; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.
  • Efthymiou S; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.
  • Houlden H; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.
  • Jamra RA; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Williams J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • McMaster CR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Platzer K; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia B3N 0A1, Canada.
Brain ; 145(6): 1916-1923, 2022 06 30.
Article em En | MEDLINE | ID: mdl-35202461
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colina Quinase / Epilepsia / Transtornos do Neurodesenvolvimento / Microcefalia / Malformações do Sistema Nervoso Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colina Quinase / Epilepsia / Transtornos do Neurodesenvolvimento / Microcefalia / Malformações do Sistema Nervoso Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha