换一批
换一批Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
作者：
Steffen,Syrbe [1]
;
Frederike L,Harms [2]
;
Elena,Parrini [3]
;
Martino,Montomoli [3]
;
Ulrike,Mütze [1]
;
Katherine L,Helbig [4]
;
Tilman,Polster [5]
;
Beate,Albrecht [6]
;
Ulrich,Bernbeck [7]
;
Ellen,van Binsbergen [8]
;
Saskia,Biskup [9]
;
Lydie,Burglen [10]
;
Jonas,Denecke [11]
;
Bénédicte,Heron [12]
;
Henrike O,Heyne [11]
;
Georg F,Hoffmann [13]
;
Frauke,Hornemann [14]
;
Takeshi,Matsushige [1]
;
Ryuki,Matsuura [15]
;
Mitsuhiro,Kato [16]
;
G Christoph,Korenke [17]
;
Alma,Kuechler [18]
;
Constanze,Lämmer [19]
;
Andreas,Merkenschlager [6]
;
Cyril,Mignot [20]
;
Susanne,Ruf [15]
;
Mitsuko,Nakashima [21]
;
Hirotomo,Saitsu [22]
;
Hannah,Stamberger [23]
;
Tiziana,Pisano [24]
;
Jun,Tohyama [25]
;
Sarah,Weckhuysen [26]
;
Wendy,Werckx [27]
;
Julia,Wickert [28]
;
Francesco,Mari [3]
;
Nienke E,Verbeek [29]
;
Rikke S,Møller [26]
;
Bobby,Koeleman [27]
;
Naomichi,Matsumoto [28]
;
William B,Dobyns [30]
;
Domenica,Battaglia [2]
;
Johannes R,Lemke [31]
;
Kerstin,Kutsche [3]
;
Renzo,Guerrini [8]
作者单位：
Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[1]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[2]
Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
[3]
Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
[4]
Bethel Epilepsy Center - Krankenhaus Mara GmbH Bielefeld, Germany.
[5]
Institut für Humangenetik, Universitaetsklinikum Essen, Universitaet Duisburg-Essen, Germany.
[6]
Rems-Murr-Kliniken GmbH, Klinik für Kinder- und Jugendmedizin, Winnenden, Germany.
[7]
Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands.
[8]
CeGaT-Center for Genomics and Transcriptomics GmbH, Tuebingen, Germany.
[9]
Centre de référence des Malformations et maladies congénitales du cervelet and Département de Génétique et embryologie médicales, AP-HP, GHUEP, Hôpital Trousseau 75012 Paris, France.
[10]
GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, Paris, France.
[11]
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[12]
AP-HP, Hôpital Trousseau, Service de Neurologie Pédiatrique; Paris, France.
[13]
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[14]
Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[15]
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan.
[16]
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
[17]
Department of Pediatrics, Showa University School of Medicine, Hatanodai, Shinagawa-ku, Tokyo, Japan.
[18]
Klinikum Oldenburg, Zentrum für Kinder- und Jugendmedizin, Klinik für Neuropaediatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany.
[19]
St. Bernward Krankenhaus, Hildesheim, Germany.
[20]
AP-HP, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
[21]
GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
[22]
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
[23]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[24]
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
[25]
Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
[26]
Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
[27]
Division of Neurology; Antwerp University Hospital, Antwerp, Belgium.
[28]
Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
[29]
Jessa Hospital, Hasselt, Belgium.
[30]
IRCCS Stella Maris Foundation, Pisa, Italy.
[31]
Danish Epilepsy Centre, Dianalund, Denmark.
[32]
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
[33]
Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.
[34]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
[35]
Child Neurology and Psychiatry Unit, Catholic University, Largo Gemelli 18, Rome, Italy.
[36]
主题词
青少年(Adolescent);萎缩(Atrophy);脑(Brain);脑疾病(Brain Diseases);载体蛋白质类(Carrier Proteins);细胞, 培养的(Cells, Cultured);儿童(Child);儿童, 学龄前(Child, Preschool);疾病恶化(Disease Progression);癫痫(Epilepsy);女(雌)性(Female);成纤维细胞(Fibroblasts);人类(Humans);男(雄)性(Male);微丝蛋白质类(Microfilament Proteins);模型, 分子(Models, Molecular);突变(Mutation);表型(Phenotype);青年人(Young Adult)
DOI
10.1093/brain/awx195
PMID
29050398
发布时间
2022-03-30
- 浏览14
Brain
Brain
2322-2336页
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