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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

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第一作者： Nuria C,Bramswig

第一单位： Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. nuria.braemswig@uni-due.de.

作者： Nuria C,Bramswig ^[1] ; Aida M,Bertoli-Avella ^[2] ; Beate,Albrecht ^[3] ; Aida I,Al Aqeel ^[4] ; Amal,Alhashem ^[5] ; Nouriya,Al-Sannaa ^[6] ; Maissa,Bah ^[7] ; Katharina,Bröhl ^[8] ; Christel,Depienne ^[9] ; Nathalie,Dorison ^[10] ; Diane,Doummar ^[11] ; Nadja,Ehmke ^[12] ; Hasnaa M,Elbendary ^[13] ; Svetlana,Gorokhova ^[14] ; Delphine,Héron ^[7] ; Denise,Horn ^[15] ; Kiely,James ^[16] ; Boris,Keren ^[7] ; Alma,Kuechler ^[3] ; Samira,Ismail ^[13] ; Mahmoud Y,Issa ^[13] ; Isabelle,Marey ^[7] ; Michèle,Mayer ^[11] ; Jennifer,McEvoy-Venneri ^[16] ; Andre,Megarbane ^[17] ; Cyril,Mignot ^[7] ; Sarar,Mohamed ^[18] ; Caroline,Nava ^[19] ; Nicole,Philip ^[14] ; Cecile,Ravix ^[20] ; Arndt,Rolfs ^[21] ; Abdelrahim Abdrabou,Sadek ^[22] ; Lara,Segebrecht ^[12] ; Valentina,Stanley ^[16] ; Camille,Trautman ^[16] ; Stephanie,Valence ^[11] ; Laurent,Villard ^[14] ; Thomas,Wieland ^[23] ; Hartmut,Engels ^[24] ; Tim M,Strom ^[25] ; Maha S,Zaki ^[13] ; Joseph G,Gleeson ^[16] ; Hermann-Josef,Lüdecke ^[26] ; Peter,Bauer ^[2] ; Dagmar,Wieczorek ^[26]

作者单位： Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. nuria.braemswig@uni-due.de. ^[1] CENTOGENE AG, The Rare Disease Company, Rostock, Germany. ^[2] Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. ^[3] Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.;American University of Beirut, Beirut, Lebanon.;Alfaisal University, Riyadh, Saudi Arabia. ^[4] Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.;Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. ^[5] John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia. ^[6] Groupe de Recherche Clinique sorbonne Université "Déficiences Intellectuelles et Autisme", Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, AP-HP, Hôpital de la Pitié Salpêtrière, 75013, Paris, France. ^[7] Internal Medicine Department, Waldkrankenhaus Evangelical Hospital, Berlin, Germany. ^[8] Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.;Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, and Inserm U 1127, and CNRS UMR 7225, and ICM, 75013, Paris, France. ^[9] Service de Neurochirurgie Pédiatrique, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France. ^[10] AP-HP, Département de neuropédiatrie, GHUEP, Hôpital Armand Trousseau, Paris, France. ^[11] Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.;Berlin Institute of Health, Berlin, Germany. ^[12] Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt. ^[13] Département de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.;Aix Marseille Univ, MMG, INSERM, Marseille, France. ^[14] Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. ^[15] Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California San Diego, Rady Children's Institute for Genomic Medicine, La Jolla, CA, 92093, USA. ^[16] CEMEDIPP-Centre Medico Psychopedagogique, Beirut, Lebanon.;Institut Jerome Lejeune, Paris, France. ^[17] Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.;Prince Abdullah bin Khaled Coeliac Disease Research Chair, College of Medicine, King Saud University, Riyadh, Saudi Arabia. ^[18] Groupe de Recherche Clinique sorbonne Université "Déficiences Intellectuelles et Autisme", Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, AP-HP, Hôpital de la Pitié Salpêtrière, 75013, Paris, France.;Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, and Inserm U 1127, and CNRS UMR 7225, and ICM, 75013, Paris, France. ^[19] Aix Marseille Univ, MMG, INSERM, Marseille, France. ^[20] CENTOGENE AG, The Rare Disease Company, Rostock, Germany.;Albrecht Kossel Institute, University of Rostock, Rostock, Germany. ^[21] Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohâg, Egypt. ^[22] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. ^[23] Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany. ^[24] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.;Institute of Human Genetics, Technische Universität München, Munich, Germany. ^[25] Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.;Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany. ^[26]