换一批De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome
第一作者：
Suls,A.
作者：
Suls,A. [1]
;
Jaehn,J.A. [2]
;
Kecskés,A. [3]
;
Weber,Y. [4]
;
Weckhuysen,S. [5]
;
Craiu,D.C. [6]
;
Siekierska,A. [7]
;
Djémie,T. [8]
;
Afrikanova,T. [9]
;
Gormley,P. [10]
;
VonSpiczak,S. [11]
;
Kluger,G. [12]
;
Iliescu,C.M. [13]
;
Talvik,T. [14]
;
Talvik,I. [15]
;
Meral,C. [16]
;
Caglayan,H.S. [17]
;
Giraldez,B.G. [18]
;
Serratosa,J. [19]
;
Lemke,J.R. [20]
;
Hoffman-Zacharska,D. [21]
;
Szczepanik,E. [22]
;
Barisic,N. [23]
;
Komarek,V. [24]
;
Hjalgrim,H. [25]
;
M?ller,R.S. [26]
;
Linnankivi,T. ;
Dimova,P. ;
Striano,P. ;
Zara,F. ;
Marini,C. ;
Guerrini,R. ;
Depienne,C. ;
Baulac,S. ;
Kuhlenb?umer,G. ;
Crawford,A.D. ;
Lehesjoki,A.-E. ;
DeWitte,P.A.M. ;
Palotie,A. ;
Lerche,H. ;
Esguerra,C.V. ;
DeJonghe,P. ;
Helbig,I.
作者单位：
Danish Epilepsy Centre, 4293 Dianalund, Denmark, Institute for Regional Health research, University
[1]
Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium, Laboratory of
[2]
Epilepsy Unit, Hospital Universitario Fundación Jiménez Diaz, Centro De Investigación Biomédica En
[3]
Institut National de la Santé et de la Recherche Médicale U975, Centre de Recherche de l'Institut
[4]
Department of Medical Genetics, Institute of Mother and Child, 01211 Warsaw, Poland
[5]
Department of Neurology, Institute of Experimental Medicine, Christian-Albrechts University of Kiel
[6]
Division of Human Genetics, University Children's Hospital Inselspital, 3010 Bern, Switzerland
[7]
Child Neurology Department, University Hospital Motol, 150 06 Praha, Czech Republic
[8]
Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1113 Sofia
[9]
University Medical Center Schleswig-Holstein, Christian-Albrechts University, 24105 Kiel, Germany
[10]
Danish Epilepsy Centre, 4293 Dianalund, Denmark
[11]
Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50132
[12]
Department of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey
[13]
Department of Pediatric Neurology, GATA Haydarpasa Teaching Hospital, 34668 Istanbul, Turkey
[14]
Clinic of Neurology of Child and Adolescents, Institute of Mother and Child, 01211 Warsaw, Poland
[15]
Folkh?lsan Institute of Genetics, 00290 Helsinki, Finland, Research Programs Unit, Molecular
[16]
Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences
[17]
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA
[18]
Neurop?diatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche
[19]
Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Genetics, and
[20]
Department of Pediatrics, University of Tartu, 51014 Tartu, Estonia, Department of Neurology and
[21]
Pediatric Neurology Clinic 2, Departments of Neurology, Pediatric Neurology, 050474 Bucharest
[22]
Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Central
[23]
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University
[24]
Laboratory of Neurogenetics, Pediatric Neurology and Muscular Diseases Unit, Department of
[25]
Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre
[26]
发布时间
2014-02-27
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The American Journal of Human Genetics
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