요약정보
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
- Resource Type
- Academic Journal
- Authors
- Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy.; Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy.; Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.; Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain.; Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain.; Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada.; Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea.; Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea.; Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France.; Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France.; Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France.; Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel.; Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.; Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel.; Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel.; Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de.; Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.
- Source
- Publisher:
Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN:00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE - Subject
- Language
- English