المؤلفون: DiCriscio, Antoinette S, Wain, KE, Smith, J, Beiler, D, Walsh, LK, Holdren, K, Troiani, Vanessa

المصدر: Brain & Behavior; Dec2022, Vol. 12 Issue 12, p1-15, 15p

المؤلفون: Riggs, ER, Church, DM, Hanson, K, Horner, VL, Kaminsky, EB, Kuhn, RM, Wain, KE, Williams, ES, Aradhya, S, Kearney, HM, Ledbetter, DH, South, ST, Thorland, EC, Martin, CL

المصدر: Clinical Genetics; May2012, Vol. 81 Issue 5, p403-412, 10p, 2 Diagrams

مصطلحات موضوعية: EVIDENCE-based medicine, MEDICAL decision making, GENETIC testing, MICROARRAY technology, GENOMES, PHENOTYPES, MEDICAL genetics

المؤلفون: Wain KE, Uhlmann WR, Heidebrink J, Roberts JS

المصدر: Journal of Genetic Counseling; Jun2009, Vol. 18 Issue 3, p239-251, 13p

المؤلفون: SoRelle JA; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas., Funke BH; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Eno CC; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Academic Pathology, Cedars-Sinai Medical Center, Los Angeles, California., Ji J; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, University of Southern California, Los Angeles, California., Santani A; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bayrak-Toydemir P; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah., Wachsmann M; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas; VA North Texas Health Care System, Dallas, Texas., Wain KE; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; GeneDx, LLC, Gaithersburg, Maryland., Mao R; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah. Electronic address: rong.mao@aruplab.com.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Mar; Vol. 26 (3), pp. 159-167. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Pathology, Molecular* , Counselors*, Humans ; United States ; Pathologists ; Surveys and Questionnaires

المؤلفون: Hallquist MLG; Geisinger, Danville, PA, USA. mhallquist@geisinger.edu., Borensztein MJ; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Coughlin CR 2nd; Department of Pediatrics and Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Buchanan AH; Geisinger, Danville, PA, USA., Andrew Faucett W; Geisinger, Danville, PA, USA., Peay HL; RTI International, Genomics, Bioinformatics, and Translational Research Center, Raleigh, NC, USA., Smith ME; Department of Medicine, Feinberg School of Medicine, Northwestern University, Evanston, IL, USA., Tricou EP; Geisinger, Danville, PA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Uhlmann WR; Division of Genetic Medicine, Department of Internal Medicine; Department of Human Genetics; Center for Bioethics & Social Sciences in Medicine, University of Michigan, Ann Arbor, MI, USA., Wain KE; Geisinger, Danville, PA, USA., Ormond KE; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA.; Health Ethics and Policy Lab, Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Oct; Vol. 31 (10), pp. 1165-1174. Date of Electronic Publication: 2023 Jun 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Counselors*, Humans ; Informed Consent/psychology ; Disclosure ; Genetic Testing ; Educational Status ; Genetic Counseling/psychology

المؤلفون: Simonovic N; Department of Psychological Sciences, Kent State University, 44242-0001, Kent, OH, USA., Taber JM; Department of Psychological Sciences, Kent State University, 44242-0001, Kent, OH, USA. jtaber1@kent.edu., Scherr CL; Department of Communication Studies, Northwestern University, Evanston, IL, USA., Dean M; Department of Communication, University of South Florida, Tampa, FL, USA.; Health Outcomes and Behavior Program, Moffitt Cancer Center, Tampa, FL, USA., Hua J; Department of Psychological Sciences; Health Sciences Research Institute, University of California, Merced, Merced, CA, USA., Howell JL; Department of Psychological Sciences; Health Sciences Research Institute, University of California, Merced, Merced, CA, USA., Chaudhry BM; School of Computing and Informatics, University of Louisiana, Lafayette, LA, USA., Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Politi MC; Department of Surgery, Washington University School of Medicine, St. Louis, MO, USA.

المصدر: Journal of behavioral medicine [J Behav Med] 2023 Aug; Vol. 46 (4), pp. 541-555. Date of Electronic Publication: 2022 Dec 27.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Science + Business Media Country of Publication: United States NLM ID: 7807105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3521 (Electronic) Linking ISSN: 01607715 NLM ISO Abbreviation: J Behav Med Subsets: MEDLINE

مواضيع طبية MeSH: Decision Making* , Delivery of Health Care*, Humans ; Uncertainty

المؤلفون: Higgs E; Cardiovascular Genetics Program, University of California, San Francisco, California, USA., Wain KE; GeneDx, LLC, Gaithersburg, Maryland, USA., Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Cho MT; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Higgins S; Metis Genetics, Dallas, Texas, USA., Blaisdell D; Discern Health, Part of Real Chemistry, San Francisco, California, USA., Dugan D; Discern Health, Part of Real Chemistry, San Francisco, California, USA., Valek S; Discern Health, Part of Real Chemistry, San Francisco, California, USA., Cohen S; Ascension St. Vincent, Indianapolis, Indiana, USA.

المصدر: Journal of genetic counseling [J Genet Couns] 2023 Apr; Vol. 32 (2), pp. 315-324. Date of Electronic Publication: 2022 Nov 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Counseling*/psychology , Counselors*/psychology, Humans ; Genetic Testing ; Delivery of Health Care ; Genetic Services

المؤلفون: Shimelis H; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Oetjens MT; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Walsh LK; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Wain KE; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Znidarsic M; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Myers SM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Finucane BM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Ledbetter DH; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Martin CL; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).

المصدر: The American journal of psychiatry [Am J Psychiatry] 2023 Jan 01; Vol. 180 (1), pp. 65-72. Date of Electronic Publication: 2022 Dec 07.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Psychiatric Association Country of Publication: United States NLM ID: 0370512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-7228 (Electronic) Linking ISSN: 0002953X NLM ISO Abbreviation: Am J Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Schizophrenia*/epidemiology , Schizophrenia*/genetics, Humans ; Penetrance ; Prevalence ; Genetic Testing ; Delivery of Health Care ; DNA Copy Number Variations/genetics

المؤلفون: Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA., Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA., Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA., Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA., Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France., Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France., Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain., Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain., Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada., Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands., Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada., Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada., Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany., Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France., Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France., Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France., van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands., Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands., Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa., O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa., Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA., Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr., Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.

المصدر: Journal of medical genetics [J Med Genet] 2022 Oct; Vol. 59 (10), pp. 965-975. Date of Electronic Publication: 2021 Dec 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/pathology , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Argonaute Proteins*/genetics, Humans ; Amino Acids/genetics ; Heterozygote ; RNA, Messenger

المؤلفون: Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark., Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Sonnenberg L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Rannap M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koch NA; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Canafoglia L; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Franceschetti S; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Mayer T; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Rebstock J; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Zacher P; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Sterbova K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lassuthová P; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Vlckova M; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Wieczorek D; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany., Kroell-Seger J; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland., Lund C; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway., Klein KM; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada., Rho JM; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Ho AW; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy., Veggiotti P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy., Giordano L; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Accorsi P; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Hoei-Hansen CE; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy., Zara F; IRCCS 'G. 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Salesi, 60121 Ancona, Italy., Bonardi CM; Department of Woman's and Child's Health, Padova University Hospital, 35100 Padova, Italy., Sartori S; Child Neurology and Clinical Neurophysiology Unit, Padova University Hospital, 35100 Padova, Italy., Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, 92637 Weiden, Germany., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 00-034 Warsaw, Poland., Mastrangelo M; Pediatric Neurology Unit, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, 20100 Milan, Italy., Darra F; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37121 Verona, Italy., Vøllo A; Department of Pediatrics, Oestfold Hospital, 1712 Graalum, Norway., Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Lakeman P; Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, 83569 Vogtareuth, Germany.; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg, 5020 Salzburg, Austria., Altuzarra C; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Caume R; Clinique de Génétique Guy Fontaine, CHU Lille, 59000, Lille, France., Roubertie A; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Gélisse P; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50131 Florence, Italy., Guerrini R; IRCCS Stella Maris, 56121 Pisa, Italy., Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Tibussek D; Child Neurology, Center for Pediatric and Teenage Health Care, 53757 Sankt Augustin, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, 45711 Datteln, Germany., Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX 76101, USA., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92637, USA., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Genomed Ltd., 100000 Moscow, Russia., Mishina I; Research Centre for Medical Genetics, 115522 Moscow, Russia., Abramov M; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Kanivets I; Svt. 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Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.

المصدر: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 2991-3009.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Generalized*/drug therapy , Epilepsy, Generalized*/genetics , Epileptic Syndromes*/drug therapy , Epileptic Syndromes*/genetics , Intellectual Disability*/genetics , NAV1.6 Voltage-Gated Sodium Channel*/genetics, Genetic Association Studies ; Humans ; Infant ; Mutation ; Prognosis ; Seizures/drug therapy ; Seizures/genetics ; Sodium Channel Blockers/therapeutic use