换一批KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
第一作者：
Laura,Cif
第一单位：
Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.;Faculté de médecine, Université de Montpellier, France.
作者：
Laura,Cif [1]
;
Diane,Demailly [1]
;
Jean-Pierre,Lin [2]
;
Katy E,Barwick [3]
;
Mario,Sa [4]
;
Lucia,Abela [3]
;
Sony,Malhotra [5]
;
Wui K,Chong [6]
;
Dora,Steel [7]
;
Alba,Sanchis-Juan [8]
;
Adeline,Ngoh [7]
;
Natalie,Trump [3]
;
Esther,Meyer [3]
;
Xavier,Vasques [9]
;
Julia,Rankin [10]
;
Meredith W,Allain [11]
;
Carolyn D,Applegate [12]
;
Sanaz,Attaripour Isfahani [13]
;
Julien,Baleine [14]
;
Bettina,Balint [15]
;
Jennifer A,Bassetti [16]
;
Emma L,Baple [17]
;
Kailash P,Bhatia [18]
;
Catherine,Blanchet [19]
;
Lydie,Burglen [20]
;
Gilles,Cambonie [14]
;
Emilie Chan,Seng [1]
;
Sandra Chantot,Bastaraud [21]
;
Fabienne,Cyprien [1]
;
Christine,Coubes [22]
;
Vincent,d'Hardemare [21]
;
Deciphering Developmental Disorders Study [23]
;
Asif,Doja [21]
;
Nathalie,Dorison [24]
;
Diane,Doummar [25]
;
Marisela E,Dy-Hollins [26]
;
Ellyn,Farrelly [27]
;
David R,Fitzpatrick [28]
;
Conor,Fearon [29]
;
Elizabeth L,Fieg [30]
;
Brent L,Fogel [31]
;
Eva B,Forman [32]
;
Rachel G,Fox [33]
;
Genomics England Research Consortium [34]
;
William A,Gahl [1]
;
Serena,Galosi [35]
;
Victoria,Gonzalez [32]
;
Tracey D,Graves [13]
;
Allison,Gregory [2]
;
Mark,Hallett [36]
;
Harutomo,Hasegawa [12]
;
Susan J,Hayflick [37]
;
Ada,Hamosh [38]
;
Marie,Hully [32]
;
Sandra,Jansen [29]
;
Suh Young,Jeong [39]
;
Joel B,Krier [40]
;
Sidney,Krystal [41]
;
Kishore R,Kumar [42]
;
Chloé,Laurencin [43]
;
Hane,Lee [44]
;
Gaetan,Lesca [45]
;
Laurence Lion,François [46]
;
Timothy,Lynch [47]
;
Neil,Mahant [14]
;
Julian A,Martinez-Agosto [48]
;
Christophe,Milesi [19]
;
Kelly A,Mills [49]
;
Michel,Mondain [50]
;
Hugo,Morales-Briceno [51]
;
NIHR BioResource [29]
;
John R,Ostergaard [52]
;
Swasti,Pal [52]
;
Juan C,Pallais [53]
;
Frédérique,Pavillard [54]
;
Pierre-Francois,Perrigault [1]
;
Andrea K,Petersen [38]
;
Gustavo,Polo [55]
;
Gaetan,Poulen [32]
;
Tuula,Rinne [56]
;
Thomas,Roujeau [57]
;
Caleb,Rogers [58]
;
Agathe,Roubertie [59]
;
Michelle,Sahagian [60]
;
Elise,Schaefer [61]
;
Laila,Selim [62]
;
Richard,Selway [33]
;
Nutan,Sharma [11]
;
Rebecca,Signer [63]
;
Ariane G,Soldatos [64]
;
David A,Stevenson [51]
;
Fiona,Stewart [38]
;
Michel,Tchan [65]
;
Undiagnosed Diseases Network [66]
;
Ishwar C,Verma [67]
;
Bert B A,de Vries [32]
;
Jenny L,Wilson [63]
;
Derek A,Wong [68]
;
Raghda,Zaitoun [69]
;
Dolly,Zhen [70]
;
Anna,Znaczko [49]
;
Russell C,Dale [71]
;
Claudio M,de Gusmão [68]
;
Jennifer,Friedman [72]
;
Victor S C,Fung [73]
;
Mary D,King [33]
;
Shekeeb S,Mohammad [74]
;
Luis,Rohena [5]
;
Jeff L,Waugh [1]
;
Camilo,Toro [7]
;
F Lucy,Raymond [7]
;
Maya,Topf ;
Philippe,Coubes ;
Kathleen M,Gorman ;
Manju A,Kurian
作者单位：
Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.;Faculté de médecine, Université de Montpellier, France.
[1]
Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.;Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.
[2]
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
[3]
Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
[4]
Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.
[5]
Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.
[6]
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.;Department of Neurology, Great Ormond Street Hospital, London, UK.
[7]
NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.;Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.
[8]
European IBM Systems Center, Montpellier, France.
[9]
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
[10]
Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
[11]
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[12]
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
[13]
Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
[14]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.;Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.
[15]
Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
[16]
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.;Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
[17]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
[18]
Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.
[19]
Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.
[20]
Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
[21]
Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.
[22]
Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
[23]
Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.
[24]
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.
[25]
Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.;Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.
[26]
Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
[27]
Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
[28]
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[29]
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[30]
Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
[31]
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
[32]
Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[33]
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
[34]
Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.
[35]
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.;Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.
[36]
Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.
[37]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
[38]
Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.
[39]
Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.;Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.;Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.
[40]
Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
[41]
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[42]
Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.
[43]
Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.
[44]
Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.;UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
[45]
Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.
[46]
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[47]
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[48]
Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.;Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
[49]
Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
[50]
Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.
[51]
Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
[52]
Randall Children's Hospital, Portland, OR, USA.
[53]
Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.
[54]
Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
[55]
Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.;INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.
[56]
Division of Neurology, Rady Children's Hospital San Diego, CA, USA.;Department of Neuroscience, University of California San Diego, CA, USA.
[57]
Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[58]
Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.
[59]
Department of Neurosurgery, King's College Hospital, London, UK.
[60]
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.;Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.
[61]
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[62]
Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.
[63]
Sydney Medical School, University of Sydney, Sydney, NSW, Australia.;Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.
[64]
Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.
[65]
Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[66]
Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.
[67]
Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.;Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.
[68]
Department of Neurology, Harvard Medical School, Boston, MA, USA.;Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[69]
Division of Neurology, Rady Children's Hospital San Diego, CA, USA.;Department of Neuroscience, University of California San Diego, CA, USA.;Departments of Paediatrics, University of California, San Diego, CA, USA.;Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
[70]
Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.;UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
[71]
Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.;Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.
[72]
Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.
[73]
NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.;Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
[74]
医学主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);队列研究(Cohort Studies);计算机模拟(Computer Simulation);深部脑刺激法(Deep Brain Stimulation);疾病恶化(Disease Progression);张力障碍(Dystonic Disorders);内分泌系统疾病(Endocrine System Diseases);女(雌)性(Female);胎儿生长迟缓(Fetal Growth Retardation);步态障碍, 神经性(Gait Disorders, Neurologic);组蛋白赖氨酸N-甲基转移酶(Histone-Lysine N-Methyltransferase);人类(Humans);喉疾病(Laryngeal Diseases);男(雄)性(Male);突变(Mutation);突变, 误义(Mutation, Missense);表型(Phenotype);生活质量(Quality of Life);治疗结果(Treatment Outcome);青年人(Young Adult)
DOI
10.1093/brain/awaa304
PMID
33150406
发布时间
2025-05-30
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Brain
Brain
3242-3261页
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