换一批
换一批
第一作者：
Kathleen M,Gorman
第一单位：
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
作者：
Kathleen M,Gorman [1]
;
Esther,Meyer [2]
;
Detelina,Grozeva [3]
;
Egidio,Spinelli [4]
;
Amy,McTague [1]
;
Alba,Sanchis-Juan [5]
;
Keren J,Carss [5]
;
Emily,Bryant [6]
;
Adi,Reich [7]
;
Amy L,Schneider [8]
;
Ronit M,Pressler [9]
;
Michael A,Simpson [10]
;
Geoff D,Debelle [11]
;
Evangeline,Wassmer [12]
;
Jenny,Morton [13]
;
Diana,Sieciechowicz [14]
;
Eric,Jan-Kamsteeg [15]
;
Alex R,Paciorkowski [16]
;
Mary D,King [17]
;
J Helen,Cross [18]
;
Annapurna,Poduri [19]
;
Heather C,Mefford [20]
;
Ingrid E,Scheffer [21]
;
Tobias B,Haack [22]
;
Gary,McCullagh [23]
;
Deciphering Developmental Disorders Study [24]
;
UK10K Consortium [25]
;
NIHR BioResource [26]
;
John J,Millichap [27]
;
Gemma L,Carvill [28]
;
Jill,Clayton-Smith [29]
;
Eamonn R,Maher [30]
;
F Lucy,Raymond [31]
;
Manju A,Kurian [32]
作者单位：
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
[1]
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
[2]
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
[3]
Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
[4]
Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
[5]
Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
[6]
GeneDx, Gaithersburg, MD 20877, USA.
[7]
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia.
[8]
Department of Clinical Neurophysiology, Great Ormond Street Hospital, London WC1N 3JH, UK; Clinical Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
[9]
Division of Genetics and Molecular Medicine, King's College, London WC2R 2LS, UK.
[10]
Department of General Paediatrics, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
[11]
Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
[12]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
[13]
Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
[14]
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, Netherlands.
[15]
Department of Neurology, Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.
[16]
Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin DO1 YC67, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
[17]
Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
[18]
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
[19]
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
[20]
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia; Florey Institute and Murdoch Institute of Neuroscience and Mental Health, Parkville, 3052, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, 3052, VIC, Australia.
[21]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany.
[22]
Department of Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
[23]
DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
[24]
UK10K, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
[25]
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
[26]
Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
[27]
Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
[28]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals, NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.
[29]
Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
[30]
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
[31]
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address: manju.kurian@ucl.ac.uk.
[32]
主题词
青少年(Adolescent);钙(Calcium);钙通道, N型(Calcium Channels, N-Type);儿童(Child);儿童, 学龄前(Child, Preschool);运动失调(Dyskinesias);癫痫(Epilepsy);女(雌)性(Female);人类(Humans);婴儿(Infant);杂合子丢失(Loss of Heterozygosity);男(雄)性(Male);突变(Mutation);系谱(Pedigree);突触传递(Synaptic Transmission)
DOI
10.1016/j.ajhg.2019.03.005
PMID
30982612
发布时间
2022-02-23
- 浏览14
American journal of human genetics
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