Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
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| Title: | Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. |
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| Authors: | Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Veale EL; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Tripathi S; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Holden RG; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany., Beek G; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Bhambhani V; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bialer M; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Bigoni S; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada., Carmichael J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Courtin T; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France., Cogne B; CHU Nantes, Service de génétique médicale, Nantes, France., Dabaj I; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France., Doummar D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France., Fazilleau L; Service de Néonatologie, CHU de Caen, Caen, France., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Graham JM Jr; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Juusola J; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kayani S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA., Keren B; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Ketteler P; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Lambert L; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France., Latypova X; CHU Nantes, Service de génétique médicale, Nantes, France., Lebel RR; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leonardi E; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liew W; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Mardini S; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Mignot C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., McLaughlin J; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Nava C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France., Ognibene D; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Runke CK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA., Spranger S; Practice of Human Genetics, Bremen, Germany., Tan ES; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Taylor J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Trentesaux AS; Service de Néonatologie, CHU de Caen, Caen, France., Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Zadeh N; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA., Urrutia R; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. mtzimmermann@mcw.edu.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu., Mathie A; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. a.a.mathie@kent.ac.uk.; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. a.a.mathie@kent.ac.uk., Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu. |
| Source: | Genome medicine [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. Date of Electronic Publication: 2022 Jun 13. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1756-994X |
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| DOI: | 10.1186/s13073-022-01064-4 |
