换一批
换一批
第一作者：
Maureen S,Mulhern
第一单位：
Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
作者：
Maureen S,Mulhern [1]
;
Constance,Stumpel [2]
;
Nicholas,Stong [1]
;
Han G,Brunner [3]
;
Louise,Bier [1]
;
Natalie,Lippa [1]
;
James,Riviello [4]
;
Rob P W,Rouhl [5]
;
Marlies,Kempers [6]
;
Rolph,Pfundt [7]
;
Alexander P A,Stegmann [2]
;
Mary K,Kukolich [8]
;
Aida,Telegrafi [9]
;
Anna,Lehman [10]
;
CAUSES study [10]
;
Elena,Lopez-Rangel [11]
;
Nada,Houcinat [12]
;
Magalie,Barth [13]
;
Nicolette,den Hollander [13]
;
Mariette J V,Hoffer [14]
;
Sarah,Weckhuysen [15]
;
EuroEPINOMICS-RES-MAE working group [14]
;
Jolien,Roovers [16]
;
Tania,Djemie [17]
;
Diana,Barca [16]
;
Berten,Ceulemans [18]
;
Dana,Craiu [19]
;
Johannes R,Lemke [20]
;
Christian,Korff [20]
;
Heather C,Mefford [21]
;
Candace T,Meyers [22]
;
Zsuzsanna,Siegler [22]
;
Susan M,Hiatt [23]
;
Gregory M,Cooper [24]
;
E Martina,Bebin [25]
;
Lot,Snijders Blok [1]
;
Hermine E,Veenstra-Knol [26]
;
Evan H,Baugh [26]
;
Eva H,Brilstra [26]
;
Catharina M L,Volker-Touw [1]
;
Ellen,van Binsbergen [27]
;
Anya,Revah-Politi [4]
;
Elaine,Pereira [28]
;
Danielle,McBrian [28]
;
Mathilde,Pacault [28]
;
Bertrand,Isidor [29]
;
Cedric,Le Caignec [29]
;
Brigitte,Gilbert-Dussardier [30]
;
Frederic,Bilan [1]
;
Erin L,Heinzen [2]
;
David B,Goldstein [31]
;
Servi J C,Stevens ;
Tristan T,Sands
作者单位：
Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
[1]
Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
[2]
Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.;Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
[3]
Department of Neurology, Columbia University Department of Neurology, New York, NY.
[4]
Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.;Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, the Netherlands.;School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
[5]
Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
[6]
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
[7]
Cook Children's Hospital, Fort Worth, TX.
[8]
GeneDx, Gaithersburg, MD.
[9]
Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
[10]
University of Burgundy-Franche-Comté, UMR1231 GAD, INSERM, Dijon, France.;Dijon Bourgogne University Hospital Center, Rare Diseases Reference Center "Developmental Anomalies and Informational Syndromes," Genetic Center, FHU-TRANSLAD, Dijon, France.
[11]
Department of Biochemistry and Genetics, Angers University Hospital Center, Angers, France.
[12]
Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[13]
Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.;Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
[14]
Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.;Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
[15]
Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
[16]
Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
[17]
Institute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[18]
Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
[19]
Department of Pediatrics, University of Washington, Seattle, WA.
[20]
Bethesda Children's Hospital, Department of Neurology, Budapest, Hungary.
[21]
HudsonAlpha Institute for Biotechnology, Huntsville, AL.
[22]
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
[23]
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.;Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
[24]
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
[25]
University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
[26]
Division of Clinical Genetics, Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY.
[27]
Genetics Service, Nantes University Hospital Center, Nantes, France.
[28]
Genetics Service, Poitiers University Hospital Center, Poitiers, France.;University of Poitiers, EA3808 NEUVACOD, Poitiers, France.
[29]
Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.;Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY.
[30]
Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.;Department of Neurology, Columbia University Department of Neurology, New York, NY.
[31]
主题词
青少年(Adolescent);载体蛋白质类(Carrier Proteins);儿童(Child);儿童, 学龄前(Child, Preschool);癫痫, 全身性(Epilepsy, Generalized);女(雌)性(Female);基因型(Genotype);人类(Humans);男(雄)性(Male);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);表型(Phenotype)
DOI
10.1002/ana.25350
PMID
30269351
发布时间
2019-11-01
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Annals of neurology
Annals of neurology
788-795页
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