换一批
换一批Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
作者：
Claire,Bar [1]
;
Giulia,Barcia [2]
;
Mélanie,Jennesson [3]
;
Gwenaël,Le Guyader [2]
;
Amy,Schneider [3]
;
Cyril,Mignot [4]
;
Gaetan,Lesca [5]
;
Delphine,Breuillard [6]
;
Martino,Montomoli [7]
;
Boris,Keren [8]
;
Diane,Doummar [9]
;
Thierry,Billette de Villemeur [10]
;
Alexandra,Afenjar [11]
;
Isabelle,Marey [12]
;
Marion,Gerard [1]
;
Hervé,Isnard [13]
;
Alice,Poisson [10]
;
Sophie,Dupont [14]
;
Patrick,Berquin [14]
;
Pierre,Meyer [15]
;
David,Genevieve [10]
;
Anne,De Saint Martin [16]
;
Salima,El Chehadeh [17]
;
Jamel,Chelly [18]
;
Agnès,Guët [9]
;
Emmanuel,Scalais [19]
;
Nathalie,Dorison [20]
;
Candace T,Myers [21]
;
Heather C,Mefford [22]
;
Katherine B,Howell [23]
;
Carla,Marini [24]
;
Jeremy L,Freeman [25]
;
Anca,Nica [25]
;
Gaetano,Terrone [26]
;
Tayeb,Sekhara [27]
;
Anne-Sophie,Lebre [28]
;
Sylvie,Odent [29]
;
Lynette G,Sadleir [30]
;
Arnold,Munnich [31]
;
Renzo,Guerrini [32]
;
Ingrid E,Scheffer [13]
;
Edor,Kabashi [31]
;
Rima,Nabbout [32]
作者单位：
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.
[1]
Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.
[2]
Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
[3]
Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
[4]
Department of Pediatrics, American Memorial Hospital, Reims, France.
[5]
Department of genetics, University hospital Poitiers, Poitiers Cedex, France.
[6]
EA3808-NEUVACOD Unité Neurovasculaire et Troubles Cognitifs, Pôle Biologie Santé, Université de Poitiers, Poitiers, France.
[7]
Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
[8]
Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.
[9]
Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.
[10]
Department of genetics, Hospices Civils de Lyon, Lyon, France.
[11]
Neurosciences centre of Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron Cedex, France.
[12]
Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.
[13]
Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.
[14]
Département de Génétique et Embryologie Médicale, Pathologies Congénitales du Cervelet-LeucoDystrophies, Centre de Référence déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, GRC n°19, Sorbonne Université, Paris, France.
[15]
Department of genetics, CHU Côte de Nacre, Caen, France.
[16]
Neurology clinic, Lyon, France.
[17]
Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team, Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University, Villeurbanne, France.
[18]
Epileptology and Rehabilitation department, GH Pitie-Salpêtrière-Charles Foix, AP-HP, Paris, France.
[19]
Department of pediatric neurology Amiens-Picardie university hospital, Université de Picardie Jules Verne, Amiens, France.
[20]
Department of pediatric neurology, Montpellier university hospital, Montpellier, France.
[21]
PhyMedExp, U1046 INSERM, UMR9214 CNRS, Montpellier, France.
[22]
Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développement, CHU Montpellier, Montpellier, France.
[23]
Department of Pediatric Neurology, Strasbourg University Hospital, Strasbourg, France.
[24]
Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[25]
Department of Pediatric, Louis-Mourier Hospital, Colombes, France.
[26]
Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg City, Luxembourg.
[27]
Department of pediatric Neurosurgery, Rothschild Foundation Hospital, Paris, France.
[28]
Department of Pediatrics, University of Washington, Seattle, Washington.
[29]
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.
[30]
Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
[31]
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
[32]
Department of Neurology, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.
[33]
Department of Translational Medical Sciences, Section of Pediatrics-Child Neurology Unit, Federico II University, Naples, Italy.
[34]
Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.
[35]
Department of genetics, Maison Blanche hospital, University hospital, Reims, Reims, France.
[36]
Reference Centre for Rare Developmental Abnormalities, CLAD-Ouest, CHU Rennes, Rennes, France.
[37]
Institute of genetics and development, CNRS UMR 6290, Rennes university, Rennes, France.
[38]
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
[39]
The Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.
[40]
主题词
等位基因(Alleles);癫痫(Epilepsy);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因型(Genotype);人类(Humans);表型(Phenotype);Shab钾通道(Shab Potassium Channels);构效关系(Structure-Activity Relationship)
DOI
10.1002/humu.23915
PMID
31513310
发布时间
2021-05-19
- 浏览2
Human mutation
Human mutation
69-80页
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