换一批
换一批Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
作者：
Eleni,Panagiotakaki [1]
;
Elisa,De Grandis [2]
;
Michela,Stagnaro [2]
;
Erin L,Heinzen [3]
;
Carmen,Fons [4]
;
Sanjay,Sisodiya [5]
;
Boukje,de Vries [6]
;
Christophe,Goubau [7]
;
Sarah,Weckhuysen [8]
;
David,Kemlink [9]
;
Ingrid,Scheffer [10]
;
Gaëtan,Lesca [11]
;
Muriel,Rabilloud [12]
;
Amna,Klich [13]
;
Alia,Ramirez-Camacho [14]
;
Adriana,Ulate-Campos [15]
;
Jaume,Campistol [15]
;
Melania,Giannotta [16]
;
Marie-Laure,Moutard [5]
;
Diane,Doummar [5]
;
Cecile,Hubsch-Bonneaud [5]
;
Fatima,Jaffer [17]
;
Helen,Cross [18]
;
Fiorella,Gurrieri [18]
;
Danilo,Tiziano [19]
;
Sona,Nevsimalova [6]
;
Sophie,Nicole [20]
;
Brian,Neville [21]
;
Arn M J M,van den Maagdenberg [21]
;
Mohamad,Mikati [10]
;
David B,Goldstein [22]
;
Rosaria,Vavassori [23]
;
Alexis,Arzimanoglou [20]
;
Italian IBAHC Consortium [7]
;
French AHC Consortium [24]
;
International AHC Consortium [25]
作者单位：
Epilepsy, Sleep and Pediatric Neurophysiology Department (ESEFNP), University Hospitals of Lyon (HCL), Lyon, France. eleni.panagiotakaki@chu-lyon.fr.
[1]
Department of Child Neuropsychiatry, G. Gaslini Hospital, University of Genoa, Genoa, Italy.
[2]
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA.
[3]
Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
[4]
Department of Child Neurology, Sant Joan de Déu Hospital, Barcelona, Spain.
[5]
Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK.
[6]
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
[7]
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
[8]
Department of Molecular Genetics, Neurogenetics Group, VIB, Antwerp, Belgium.
[9]
Department of Neurology, Charles University, First Faculty of Medicine and Teaching Hospital, Prague, Czech Republic.
[10]
Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
[11]
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.
[12]
Department of Genetics, University Hospitals of Lyon (HCL) and Claude Bernard Lyon I University, Lyon, France.
[13]
Lyon Neuroscience Research Center (CRNL), CNRS UMR 5292, INSERM U1028, Lyon, France.
[14]
Biostatistics Department, University Hospitals of Lyon and UMR 5558, Lyon, France.
[15]
Epilepsy, Sleep and Pediatric Neurophysiology Department (ESEFNP), University Hospitals of Lyon (HCL), Lyon, France.
[16]
Child Neurology Unit, Maggiore Hospital, Bologna, Italy.
[17]
Department of Child Neurology, Armand Trousseau Hospital, APHP, Paris, France.
[18]
Department of Neurology, Pitié-Salpêtrière Hospital, APHP, Paris, France.
[19]
Institute of Child Health, University College London, London, UK.
[20]
Institute of Medical Genetics, University Cattolica del Sacro Cuore, Policlinics A. Gemelli, Rome, Italy.
[21]
Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France.
[22]
Centre National de la Recherche Scientifique, UMR7225, Paris, France.
[23]
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
[24]
Division of Pediatric Neurology and Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA.
[25]
Associazione Italiana per la Sindrome di Emiplegia Alternante (A.I.S.EA Onlus), Lecco, Italy.
[26]
DYCOG team, Lyon Neuroscience Research Centre (CRNL), INSERM U1028; CNRS UMR 5292, Lyon, France.
[27]
主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);遗传关联研究(Genetic Association Studies);健康调查(Health Surveys);偏瘫(Hemiplegia);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);预后(Prognosis);钠钾交换ATP酶(Sodium-Potassium-Exchanging ATPase);青年人(Young Adult)
DOI
10.1186/s13023-015-0335-5
PMID
26410222
发布时间
2022-04-08
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