换一批
第一作者：
Katrine M,Johannesen
第一单位：
The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.;Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
作者：
Katrine M,Johannesen [1]
;
Elena,Gardella [1]
;
Tarja,Linnankivi [2]
;
Carolina,Courage [3]
;
Anne,de Saint Martin [4]
;
Anna-Elina,Lehesjoki [3]
;
Cyril,Mignot [5]
;
Alexandra,Afenjar [6]
;
Gaetan,Lesca [7]
;
Marie-Thérèse,Abi-Warde [4]
;
Jamel,Chelly [8]
;
Amélie,Piton [8]
;
J Lawrence,Merritt [9]
;
Lance H,Rodan [10]
;
Wen-Hann,Tan [10]
;
Lynne M,Bird [11]
;
Mark,Nespeca [12]
;
Joseph G,Gleeson [13]
;
Yongjin,Yoo [14]
;
Murim,Choi [14]
;
Jong-Hee,Chae [15]
;
Desiree,Czapansky-Beilman [16]
;
Sara Chadwick,Reichert [17]
;
Manuela,Pendziwiat [18]
;
Judith S,Verhoeven [19]
;
Helenius J,Schelhaas [19]
;
Orrin,Devinsky [20]
;
Jakob,Christensen [21]
;
Nicola,Specchio [22]
;
Marina,Trivisano [22]
;
Yvonne G,Weber [23]
;
Caroline,Nava [24]
;
Boris,Keren [24]
;
Diane,Doummar [25]
;
Elise,Schaefer [26]
;
Sarah,Hopkins [27]
;
Holly,Dubbs [28]
;
Jessica E,Shaw [28]
;
Laura,Pisani [28]
;
Candace T,Myers [9]
;
Sha,Tang [29]
;
Shan,Tang [30]
;
Deb K,Pal [30]
;
John J,Millichap [31]
;
Gemma L,Carvill [32]
;
Kathrine L,Helbig [29]
;
Oriano,Mecarelli [33]
;
Pasquale,Striano [34]
;
Ingo,Helbig [35]
;
Guido,Rubboli [36]
;
Heather C,Mefford [9]
;
Rikke S,Møller [1]
作者单位：
The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.;Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
[1]
Department of Child Neurology, Children's Hospital, Helsinki University Hospital Helsinki, University of Helsinki, Helsinki, Finland.
[2]
The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.;Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland.
[3]
Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France.;Reference Center for Rare Epilepsies, Strasbourg, France.
[4]
Department of Genetics, Center for Rare causes of Intellectual Disabilities and UPMC Research Group "Intellectual Disabilities and Autism", Paris, France.
[5]
APHP, Genetic Services, Hospital Trousseau, Paris, France.
[6]
Departments of Genetics, Lyon University Hospitals, Lyon, France.;Claude Bernard Lyon I University, Lyon, France.;Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France.
[7]
Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France.;Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[8]
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
[9]
Boston Children's Hospital, Boston, MA, USA.;Harvard Medical School, Boston, MA, USA.
[10]
Division of Genetics, Department of Pediatrics, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA.
[11]
Division of Neurology, Rady Children's Hospital, University of California, San Diego, CA, USA.
[12]
Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
[13]
Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea.
[14]
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University School of Medicine, Seoul, South Korea.
[15]
Pediatric Neurology, Gillette Children's Specialty Healthcare, Burnsville, MN, USA.
[16]
Children's Minnesota, Minneapolis, MN, USA.
[17]
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
[18]
Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands.
[19]
NYU Epilepsy Center, New York, NY, USA.
[20]
Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
[21]
Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[22]
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany.
[23]
Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.;Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.
[24]
Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France.
[25]
Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[26]
Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[27]
Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
[28]
Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
[29]
Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
[30]
Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.;Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[31]
Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[32]
Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy.
[33]
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini" Institute, Genova, Italy.
[34]
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.;Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[35]
The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.;University of Copenhagen, Copenhagen, Denmark.
[36]
医学主题词
青少年(Adolescent);成年人(Adult);抗惊厥药(Anticonvulsants);共济失调(Ataxia);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);脑电描记术(Electroencephalography);癫痫, 肌阵挛性(Epilepsies, Myoclonic);癫痫, 部分性(Epilepsies, Partial);癫痫, 全身性(Epilepsy, Generalized);女(雌)性(Female);GABA质膜转运蛋白质类(GABA Plasma Membrane Transport Proteins);遗传关联研究(Genetic Association Studies);人类(Humans);语言发展障碍(Language Development Disorders);男(雄)性(Male);突变(Mutation);突变, 误义(Mutation, Missense);表型(Phenotype);治疗结果(Treatment Outcome);丙戊酸(Valproic Acid);青年人(Young Adult)
DOI
10.1111/epi.13986
PMID
29315614
发布时间
2021-01-09
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Epilepsia
Epilepsia
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