换一批Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants.
第一作者：
Alessandra,Rossi
第一单位：
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;IRCCS Eugenio Medea Scientific Institute, Conegliano, Treviso, Italy.;Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.;Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Italy.
作者：
Alessandra,Rossi [1]
;
Susan X N,Lin [2]
;
Nathan L,Absalom [3]
;
Sebastian,Ortiz-De la Rosa [4]
;
Vivian W Y,Liao [2]
;
Nazanin A,Mohammadi [5]
;
Sindhu,Viswanathan [6]
;
Tommy,Stödberg [7]
;
Alberto,Danieli [8]
;
Paolo,Bonanni [8]
;
Alec,Aeby [9]
;
Alessandro,Orsini [10]
;
Alice,Bonuccelli [10]
;
Andrea,Rüegger [11]
;
Beatriz G,Giraldez [12]
;
Bertrand,Isidor [13]
;
Burkhard,Stüve [14]
;
Carla,Marini [15]
;
Elisabetta,Cesaroni [15]
;
Christina D,Fenger [16]
;
Christophe,Philippe [17]
;
Colombine,Meunier [18]
;
Damien,Lederer [18]
;
Stéphanie,Moortgat [18]
;
Egidio,Spinelli [19]
;
Elisa,Fallica [20]
;
Fiona,Zeiner [21]
;
Matthias,Bauman [21]
;
Laura,Licchetta [22]
;
Francesca,Bisulli [23]
;
Francesca F,Operto [24]
;
Ira,Benkel-Herrenbrueck [25]
;
Kathleen M,Gorman [26]
;
Katrine M,Johannesen [27]
;
Konrad,Platzer [28]
;
Franziska,Schnabel [28]
;
Lieven,Lagae [29]
;
Mirjam,Laufs [30]
;
Riina,Zordania [31]
;
Stephen,Malone [32]
;
Tullio,Messana [33]
;
Wendy,Werckx [34]
;
Charlotta,Jonsson [35]
;
Zaid,Afawi [36]
;
Thomas,Foiadelli [37]
;
Yosra,Halleb [38]
;
Radka,Stoeva [38]
;
Mélanie,Jennesson-Lyver [39]
;
Gaetan,Lesca [40]
;
Renzo,Guerrini [41]
;
Samuel F,Berkovic [6]
;
Ingrid E,Scheffer [42]
;
Mary,Chebib [2]
;
Elena,Gardella [5]
;
Rikke S,Møller [5]
;
Guido,Rubboli [43]
;
Philip K,Ahring [2]
作者单位：
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;IRCCS Eugenio Medea Scientific Institute, Conegliano, Treviso, Italy.;Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.;Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Italy.
[1]
Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.
[2]
School of Science, University of Western Sydney, New South Wales, Australia.
[3]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.;Instituto Roosevelt, Bogotá, Colombia.
[4]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
[5]
Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.
[6]
Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.;Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
[7]
IRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.
[8]
Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
[9]
Pediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
[10]
Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
[11]
Epilepsy Unit, Neurology Service, Hospital Universitario and IIS Fundación Jiménez Díaz and CIBERER, Madrid, Spain.
[12]
Service de Génétique Médicale, CHU Nantes, Nantes, France.
[13]
Department of Neuropediatrics, Children's Hospital Siegen, Germany.
[14]
Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.
[15]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;Amplexa Genetics, Odense, Denmark.
[16]
UFR des Sciences de Santé, GAD "Génétique des Anomalies du Développement", INSERM-Université de Bourgogne UMR1231, Fédération Hospitalo-Universitaire (FHU)-TRANSLAD, Dijon, France.;Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospital-Universitaire-TRANSLAD, CHU Dijon Bourgogne, France.;Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, France.
[17]
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
[18]
Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
[19]
Neurology Unit, University Hospital of Ferrara, Italy.
[20]
Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
[21]
IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.
[22]
IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.;Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.
[23]
Department of Science of Health School of Medicine, University of Magna Graecia Catanzaro, Italy.
[24]
Sana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Germany.
[25]
Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.;School of Medicine and Medical Science, University College Dublin, Ireland.
[26]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark.
[27]
Institute of Human Genetics, University of Leipzig Medical Center, Germany.
[28]
Department of Development and Regeneration, Section Paediatric Neurology, University Hospital Leuven, Belgium.
[29]
Department of Neuropediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
[30]
Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Estonia.
[31]
Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Australia.;Centre for Advanced Imaging, University of Queensland, St Lucia, Australia.
[32]
IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichitaria dell'età Pediatrica, Bologna, Italy.
[33]
Jessa Hospital, Hasselt, Belgium.
[34]
Department of Pediatrics, Vrinnevi Hospital, Norrköping, Sweden.
[35]
Ben-Gurion University of the Negev, Beer-Sheva, Israel.;Erasmus MC, Rotterdam, the Netherlands.
[36]
Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.
[37]
Department of Medical Genetics, Le Mans Hospital, France.
[38]
Department of Pediatrics, CHU, Reims, France.
[39]
Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, France.;Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, France.
[40]
Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.;University of Florence, Italy.
[41]
Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.;Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia; and.
[42]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.;Institute of Clinical Medicine, University of Copenhagen, Denmark.
[43]
医学主题词
人类(Humans);受体, GABA-A(Receptors, GABA-A);女(雌)性(Female);男(雄)性(Male);表型(Phenotype);儿童(Child);儿童, 学龄前(Child, Preschool);婴儿(Infant);青少年(Adolescent);癫痫(Epilepsy);突变, 误义(Mutation, Missense);成年人(Adult);队列研究(Cohort Studies);青年人(Young Adult);惊厥, 发热性(Seizures, Febrile)
DOI
10.1212/WNL.0000000000213644
PMID
40570274
发布时间
2025-06-28
- 浏览1
Neurology
Neurology
e213644页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
