第一单位：
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; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
作者：
Vincenzo,Salpietro [1]
;
Nancy T,Malintan [2]
;
Isabel,Llano-Rivas [3]
;
Christine G,Spaeth [4]
;
Stephanie,Efthymiou [5]
;
Pasquale,Striano [6]
;
Jana,Vandrovcova [7]
;
Maria C,Cutrupi [8]
;
Roberto,Chimenz [8]
;
Emanuele,David [9]
;
Gabriella,Di Rosa [10]
;
Anna,Marce-Grau [11]
;
Miquel,Raspall-Chaure [11]
;
Elena,Martin-Hernandez [12]
;
Federico,Zara [13]
;
Carlo,Minetti [6]
;
Deciphering Developmental Disorders Study [2]
;
SYNAPS Study Group [14]
;
Oscar D,Bello [15]
;
Rita,De Zorzi [16]
;
Sara,Fortuna [17]
;
Andrew,Dauber [18]
;
Mariam,Alkhawaja [19]
;
Tipu,Sultan [20]
;
Kshitij,Mankad [21]
;
Antonio,Vitobello [20]
;
Quentin,Thomas [22]
;
Frederic Tran,Mau-Them [23]
;
Laurence,Faivre [4]
;
Francisco,Martinez-Azorin [11]
;
Carlos E,Prada [2]
;
Alfons,Macaya [24]
;
Dimitri M,Kullmann [25]
;
James E,Rothman [26]
;
Shyam S,Krishnakumar ;
Henry,Houlden
作者单位：
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; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
[1]
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
[2]
Department of Medical Genetics, Hospital Universitario Cruces, Greater Bilbao 48903, Spain.
[3]
Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.
[4]
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
[5]
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.
[6]
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
[7]
Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
[8]
Papardo University Hospital, Viale Ferdinando Stagno d'Alcontres, Contrada Papardo, Messina 98158, Italy.
[9]
Division of Child Neurology and Psychiatry, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
[10]
Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
[11]
Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Departamento de Pediatría, Hospital 12 de Octubre, Madrid 28041, Spain.
[12]
Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova 16147, Italy.
[13]
Center of Excellence in Biocrystallography, Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.
[14]
Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.
[15]
Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.
[16]
Prince Hamzah Hospital, Ministry of Health, Amman 11181, Jordan.
[17]
Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore 54600, Pakistan.
[18]
Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
[19]
Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.
[20]
Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.
[21]
Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France; Center de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.
[22]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid 28041, Spain.
[23]
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA.
[24]
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: s.krishnakumar@ucl.ac.uk.
[25]
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
[26]
DOI
10.1016/j.ajhg.2019.02.016
PMID
30929742
发布时间
2022-03-23
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