换一批IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
第一作者：
Cyril,Mignot
第一单位：
INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. cyril.mignot@aphp.fr.;APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France. cyril.mignot@aphp.fr.
作者：
Cyril,Mignot [1]
;
Aoife C,McMahon [2]
;
Claire,Bar [3]
;
Philippe M,Campeau [4]
;
Claire,Davidson [2]
;
Julien,Buratti [5]
;
Caroline,Nava [6]
;
Marie-Line,Jacquemont [7]
;
Marilyn,Tallot [7]
;
Mathieu,Milh [8]
;
Patrick,Edery [9]
;
Pauline,Marzin [5]
;
Giulia,Barcia [10]
;
Christine,Barnerias [11]
;
Claude,Besmond [12]
;
Thierry,Bienvenu [13]
;
Ange-Line,Bruel [14]
;
Ledia,Brunga [15]
;
Berten,Ceulemans [16]
;
Christine,Coubes [17]
;
Ana G,Cristancho [18]
;
Fiona,Cunningham [2]
;
Marie-Bertille,Dehouck [19]
;
Elizabeth J,Donner [15]
;
Bénédicte,Duban-Bedu [19]
;
Christèle,Dubourg [20]
;
Elena,Gardella [21]
;
Julie,Gauthier [4]
;
David,Geneviève [22]
;
Stéphanie,Gobin-Limballe [23]
;
Ethan M,Goldberg [18]
;
Eveline,Hagebeuk [24]
;
Fadi F,Hamdan [4]
;
Miroslava,Hančárová [25]
;
Laurence,Hubert [12]
;
Christine,Ioos [26]
;
Shoji,Ichikawa [27]
;
Sandra,Janssens [28]
;
Hubert,Journel [29]
;
Anna,Kaminska [30]
;
Boris,Keren [5]
;
Marije,Koopmans [31]
;
Caroline,Lacoste [32]
;
Petra,Laššuthová [33]
;
Damien,Lederer [34]
;
Daphné,Lehalle [35]
;
Dragan,Marjanovic [36]
;
Julia,Métreau [37]
;
Jacques L,Michaud [4]
;
Kathryn,Miller [38]
;
Berge A,Minassian [15]
;
Joannella,Morales [2]
;
Marie-Laure,Moutard [39]
;
Arnold,Munnich [10]
;
Xilma R,Ortiz-Gonzalez [18]
;
Jean-Marc,Pinard [40]
;
Darina,Prchalová [25]
;
Audrey,Putoux [9]
;
Chloé,Quelin [41]
;
Alyssa R,Rosen [18]
;
Joelle,Roume [42]
;
Elsa,Rossignol [43]
;
Marleen E H,Simon [31]
;
Thomas,Smol [44]
;
Natasha,Shur [38]
;
Ivan,Shelihan [4]
;
Katalin,Štěrbová [33]
;
Emílie,Vyhnálková [25]
;
Catheline,Vilain [45]
;
Julie,Soblet [45]
;
Guillaume,Smits [45]
;
Samuel P,Yang [46]
;
Jasper J,van der Smagt [31]
;
Peter M,van Hasselt [47]
;
Marjan,van Kempen [31]
;
Sarah,Weckhuysen [48]
;
Ingo,Helbig [18]
;
Laurent,Villard [49]
;
Delphine,Héron [5]
;
Bobby,Koeleman [31]
;
Rikke S,Møller [50]
;
Gaetan,Lesca [9]
;
Katherine L,Helbig [18]
;
Rima,Nabbout [3]
;
Nienke E,Verbeek [31]
;
Christel,Depienne [51]
作者单位：
INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. cyril.mignot@aphp.fr.;APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France. cyril.mignot@aphp.fr.
[1]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
[2]
APHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.;INSERM U1163, Imagine Institute, Paris, France.;Paris Descartes University, Paris, France.
[3]
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
[4]
APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
[5]
INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.;APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
[6]
CHU La Reunion-Groupe Hospitalier Sud Reunion, La Reunion, France.
[7]
APHM, Hôpital d'Enfants de La Timone, Service de Neurologie Pediatrique, centre de reference deficiences intellectuelles de cause rare, Marseille, France.;Aix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France.
[8]
Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.;INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France.;Claude Bernard Lyon I University, Lyon, France.
[9]
INSERM U1163, Imagine Institute, Paris, France.;Paris Descartes University, Paris, France.;APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
[10]
APHP, Unite fonctionnelle de Neurologie, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
[11]
INSERM U1163, Imagine Institute, Paris, France.;Paris Descartes University, Paris, France.
[12]
APHP, Laboratoire de Genetique et Biologie Moleculaires, Hôpital Cochin, HUPC, Paris, France.;Universite Paris Descartes Paris, Institut de Psychiatrie et de Neurosciences de Paris, Inserm U894, Paris, France.
[13]
FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.;INSERM UMR 1231 GAD team, Genetics of Developmental disorders, Universite de Bourgogne-Franche Comte, Dijon, France.
[14]
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
[15]
Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium.
[16]
Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.
[17]
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[18]
Centre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
[19]
CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.
[20]
Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.;Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
[21]
Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.;INSERM U1183, Montpellier, France.
[22]
APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
[23]
Stichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands.
[24]
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
[25]
APHP, University Hospital of Paris ïle-de-France ouest, Raymond Poincare Hospital, Garches, France.
[26]
Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
[27]
Centre for Medical Genetics Ghent, Ghent University Hospital, C. Heymanslaan 10, Ghent, Belgium.
[28]
Service de Genetique Medicale, Hôpital Chubert, Vannes, France.
[29]
APHP, Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Paris, France.
[30]
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[31]
Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France.
[32]
Child Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
[33]
Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Gosselies, Belgium.
[34]
FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.;Unite fonctionnelle de genetique clinique, Centre Hospitalier Intercommunal de Creteil, Creteil, France.
[35]
Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
[36]
APHP, Service de neurologie pediatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France.
[37]
Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
[38]
APHP, Hôpital Trousseau, service de neuropediatrie, Paris, France.;Sorbonne Universite, GRC n°19, pathologies Congenitales du Cervelet-LeucoDystrophies, APHP, Hôpital Armand Trousseau, Paris, France.
[39]
Division of Neuropediatrics, CHU Raymond Poincare (APHP), Garches, France.
[40]
Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
[41]
Unite de Genetique Medicale, Centre de Reference des Maladies rares du Developpement (AnD DI Rares), CHI Poissy-St Germain en Laye, Poissy, France.
[42]
Departments of Pediatrics and Neurosciences, CHU Sainte-Justine and University of Montreal, Montreal, Canada.
[43]
Institut de Genetique Medicale, CHRU Lille, Universite de Lille, Lille, France.
[44]
Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.;Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.;Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium.
[45]
Clinical Genomics & Predictive Medicine, Providence Medical Group, Dayton, WA, USA.
[46]
Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.
[47]
Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp, Belgium.;Neurology Department, University Hospital Antwerp, Antwerp, Belgium.
[48]
Aix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France.;Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France.
[49]
CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.;Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
[50]
INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. christel.depienne@uni-due.de.;IGBMC, CNRS UMR 7104/INSERM U964/Universite de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.;Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.
[51]
医学主题词
脑(Brain);脑疾病(Brain Diseases);女(雌)性(Female);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);蛋白质亚型(Protein Isoforms);发作(Seizures);性征(Sex Characteristics)
DOI
10.1038/s41436-018-0268-1
PMID
30206421
发布时间
2022-02-10
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Genetics in medicine
Genetics in medicine
837-849页
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