换一批
换一批
作者：
Arthur,Stefanski [1]
;
Eduardo,Pérez-Palma [2]
;
Tobias,Brünger [3]
;
Ludovica,Montanucci [1]
;
Cornelius,Gati [4]
;
Chiara,Klöckner [5]
;
Katrine M,Johannesen [6]
;
Kimberly,Goodspeed [7]
;
Marie,Macnee [3]
;
Alexander T,Deng [8]
;
Ángel,Aledo-Serrano [9]
;
Artem,Borovikov [10]
;
Maina,Kava [11]
;
Arjan M,Bouman [12]
;
M J,Hajianpour [13]
;
Deb K,Pal [14]
;
Marc,Engelen [15]
;
Eveline E O,Hagebeuk [16]
;
Marwan,Shinawi [17]
;
Alexis R,Heidlebaugh [18]
;
Kathryn,Oetjens [18]
;
Trevor L,Hoffman [19]
;
Pasquale,Striano [20]
;
Amanda S,Freed [21]
;
Line,Futtrup [22]
;
Thomas,Balslev [23]
;
Anna,Abulí [24]
;
Leslie,Danvoye [25]
;
Damien,Lederer [26]
;
Tugce,Balci [27]
;
Maryam Nabavi,Nouri [28]
;
Elizabeth,Butler [29]
;
Sarah,Drewes [30]
;
Kalene,van Engelen [31]
;
Katherine B,Howell [32]
;
Jean,Khoury [1]
;
Patrick,May [33]
;
Marena,Trinidad [34]
;
Steven,Froelich [34]
;
Johannes R,Lemke [35]
;
Jacob,Tiller [36]
;
Amber N,Freed [36]
;
Jing-Qiong,Kang [37]
;
Arthur,Wuster [34]
;
Rikke S,Møller [38]
;
Dennis,Lal [39]
作者单位：
Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.
[1]
Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile.
[2]
Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany.
[3]
Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA.
[4]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
[5]
Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.;Department of Genetics, University Hospital of Copenhagen, Rigshispitalet, Copenhagen 2100, Denmark.
[6]
Children's Health, Medical Center, Dallas, TX 75235, USA.;Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
[7]
Clinical Genetics, Guys and St Thomas NHS Trust, London SE19RT, UK.
[8]
Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain.
[9]
Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia.
[10]
Department of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth 6009, Australia.;School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth 6009, Australia.
[11]
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015GD, The Netherlands.
[12]
Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA.
[13]
Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.;Department of Basic and Clinical Neurosciences, King's College Hospital, London SE59RS, UK.
[14]
Department of Pediatric Neurology, Amsterdam Public Health, Amsterdam University Medical Center, Amsterdam 1081HV, The Netherlands.
[15]
Department of Pediatric Neurology, Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede and Zwolle 2103SW, The Netherlands.
[16]
Division of Genetics and Genomic Medicine, Department of Pediatrics, St.Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA.
[17]
Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA.
[18]
Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA.
[19]
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.
[20]
Department of Clinical Science, Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA 91101, USA.
[21]
Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.
[22]
Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.;Centre for Educational Development, Aarhus University, Aarhus 8200, Denmark.
[23]
Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
[24]
Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium.
[25]
Centre for Human Genetics, Institute for Pathology and Genetics, Gosselies 6041, Belgium.
[26]
Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.;Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5A5, Canada.
[27]
Department of Paediatrics, Division of Pediatric Neurology, London Health Sciences Centre, London, ON N6A5W9, Canada.
[28]
GeneDx, Gaithersburg, MD 20877, USA.
[29]
Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
[30]
Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.
[31]
Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.;Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.;Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
[32]
Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg.
[33]
Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA.
[34]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.;Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany.
[35]
SLC6A1 Connect, Frisco, TX 75034, USA.
[36]
Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37240, USA.;Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37235, USA.;Department of Neurology, Vanderbilt Brain Institute, Nashville, TN 37235, USA.;Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.;Vanderbilt Kennedy Center of Human Development, Nashville, TN 37203, USA.
[37]
Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.;Department of Regional Health Research, University of Southern Denmark, Odense 5000, Denmark.
[38]
Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.;Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.;Department of Neurology, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.
[39]
主题词
人类(Humans);GABA质膜转运蛋白质类(GABA Plasma Membrane Transport Proteins);遗传关联研究(Genetic Association Studies);突变, 误义(Mutation, Missense);表型(Phenotype)
DOI
10.1093/brain/awad292
PMID
37647852
发布时间
2024-12-14
- 浏览5
Brain
Brain
5198-5208页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
