Zobrazeno 1 - 10
of 21
pro vyhledávání: '"El Achkar CM"'
Autor:
Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Whitney R; Comprehensive Pediatric Epilepsy Program, Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Thomas M; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Danda S; Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Chettali AM; Department of Child Health, Royal Hospital, Muscat, Sultanate of Oman., Prasad AN; Division of Pediatric Neurology and Clinical Neurosciences, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada., Farhan SMK; Department of Neurology and Neurosurgery, and Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada., AlSowat D; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abukhaled M; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldhalaan H; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Kinhal UV; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Bylappa AY; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Konanki R; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Lingappa L; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Parchuri BM; Bindu Child Neuro Center, Vijayawada, Andhra Pradesh, India., Appendino JP; Pediatric Neurology Service, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada., Scantlebury MH; Departments of Pediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Cunningham J; Hospital Library and Archives, Learning Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Hadjinicolaou A; Division of Neurology, Department of Pediatrics, CHU (Centre Hospitalier Universitaire) Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., El Achkar CM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kamate M; Department of Pediatric Neurology, Jawaharlal Nehru Medical College, KLE (Karnataka Lingayat Education) Academy of Higher Education and Research, KLE's Dr Prabhakar Kore (PK) Hospital, Belagavi, Karnataka, India., Menon RN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, India., Jose M; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, India., Riordan G; Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Kannan L; Advanced Center for Epilepsy, Gleneagles Global Health City, Chennai, Tamil Nadu, India., Jain V; Department of Pediatric Neurology, Neoclinic Children's Hospital, Jaipur, Rajasthan, India., Manokaran RK; Division of Pediatric neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India., Chau V; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Donner EJ; Epilepsy Program, Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Jain P; Epilepsy Program, Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Publikováno v:
Epilepsia [Epilepsia] 2024 Mar; Vol. 65 (3), pp. 709-724. Date of Electronic Publication: 2024 Jan 17.
Autor:
Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Biomedical Research Center, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; KI for Health Science and Technology, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Center for Epidemic Preparedness, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr., Woo S; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea., de Gusmao CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Postgraduate School of Medical Science, University of Campinas (UNICAMP), São Paulo, Brazil., Zhao B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Chin DH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., DiDonato RL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nguyen MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nakayama T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Hu CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Kuniholm A; Institutional Center for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Thornton JK; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Riccardi O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Friedman DA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., El Achkar CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Dash Z; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Cornelissen L; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Donado C; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Bush LW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Center for Bioethics, Harvard Medical School, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lentucci C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Patterson A; Harvard Medical School, Boston, MA, USA.; Department of Pharmacy, Boston Children's Hospital, Boston, MA, USA., Philippakis AA; Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Margus B; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Berde CB; Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Publikováno v:
Nature [Nature] 2023 Jul; Vol. 619 (7971), pp. 828-836. Date of Electronic Publication: 2023 Jul 12.
Autor:
Keehan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Haviland I; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Swanson LC; 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., Schreiber J; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, District of Columbia, USA., VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA., Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Departments of Neuroscience and Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; McNair Medical Institute at the Robert and Janice McNair Foundation, Houston, Texas, USA., Pham L; The Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, Texas, USA., Samaco RC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Elsea S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Thorpe E; Illumina, Inc., San-Diego, California, USA., Kesari A; Illumina, Inc., San-Diego, California, USA., Perry D; Illumina, Inc., San-Diego, California, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Olson HE; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3516-3524. Date of Electronic Publication: 2022 Aug 07.
Autor:
Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., El Achkar CM; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Barkovich AJ; Department of Radiology, University of California, San Francisco, CA., Cao Y; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., DiStefano M; Broad Institute of MIT and Harvard, Cambridge, MA; Precision Health Program, Geisinger, Danville, PA., Evenson M; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, Meyer Children's University Hospital, University of Florence, Florence, Italy., Knight D; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Lee YS; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Hospital, Memphis, TN., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA., Mochida G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Patel M; Broad Institute of MIT and Harvard, Cambridge, MA., Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Spencer S; Division of Reproductive Genetics, Northwestern Medicine, Chicago, IL., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Yuskaitis CJ; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: timothy.yu@childrens.harvard.edu., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@childrens.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2240-2248. Date of Electronic Publication: 2022 Aug 23.
Autor:
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.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Oct; Vol. 59 (10), pp. 965-975. Date of Electronic Publication: 2021 Dec 15.
Autor:
Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Neuroscience Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Biology, The College of New Jersey, Ewing Township, NJ 08618, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Fitch E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gan J; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China., Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Kaufman MC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE2 4HH, UK.; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK., Galer P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Center for Neuroengineering and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA., Cunningham K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., O'Brien M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Darling A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Veiga de Goes F; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Doering JH; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Furia F; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., García-Cazorla Á; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Geertjens L; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Klein C; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Lammertse H; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Lee J; Department of Pediatrics, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea., Mackie A; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Misra-Isrie M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Olson H; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sexton E; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sotero L; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., Stamberger H; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Syrbe S; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Thalwitzer KM; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., van Berkel A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Yuskaitis C; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Weckhuysen S; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Prosser B; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Son Rigby C; STXBP1 Foundation, Apex, NC 27539, USA., Demarest S; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Pierce S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zhang Y; Department of Pediatrics, Beijing University First Hospital, Beijing, China., Møller RS; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Bruining H; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Verhage M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1668-1683.
Autor:
Spinelli E; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Christensen KR; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Bryant E; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Schneider A; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rakotomamonjy J; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Giannelli J; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Schmidt B; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Wilson WG; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Marco EJ; Department of Pediatrics, University of California, San Francisco, CA.; Research Division, Cortica Healthcare, San Rafael, CA., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Pisano T; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Barba C; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Brilstra EH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goldberg-Stern H; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Carney PW; Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia., Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., El Achkar CM; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Berkovic S; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rodan LH; Department of Neurology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., McWalter K; GeneDx, Gaithersburg, MD., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Mandelstam S; Department of Pediatrics and Radiology, University of Melbourne, Melbourne, VIC, Australia.; Department of Medical Imaging, Royal Children's Hospital of Melbourne, Melbourne, VIC, Australia., Laux L; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Millichap JJ; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Guemez-Gamboa A; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Nairn AC; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Carvill GL; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Publikováno v:
Annals of neurology [Ann Neurol] 2021 Aug; Vol. 90 (2), pp. 274-284. Date of Electronic Publication: 2021 Jul 13.
Autor:
El Achkar CM; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA., Harrer M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA., Kelly M; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Dartmouth Geisel School of Medicine, Hanover, NH., Iqbal S; Center for Development of Therapeutics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA., Maljevic S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Australia., Niturad CE; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA., Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA., Lal D; Cleveland Clinic Genomic Medicine Institute and Neurological Institute, Cleveland, OH., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Olson HE; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.
Publikováno v:
Annals of neurology [Ann Neurol] 2021 Mar; Vol. 89 (3), pp. 573-586. Date of Electronic Publication: 2020 Dec 24.
Autor:
Bushlin I; From the Epilepsy Genetics Program (L.S., C.M.E.A.) and Clinical Neurophysiology Fellowship Program (J.M.P.), Division of Epilepsy (I.B.), Department of Neurology, Boston Children's Hospital, MA. Ittai.Bushlin@childrens.harvard.edu., Smith L; From the Epilepsy Genetics Program (L.S., C.M.E.A.) and Clinical Neurophysiology Fellowship Program (J.M.P.), Division of Epilepsy (I.B.), Department of Neurology, Boston Children's Hospital, MA., Peters JM; From the Epilepsy Genetics Program (L.S., C.M.E.A.) and Clinical Neurophysiology Fellowship Program (J.M.P.), Division of Epilepsy (I.B.), Department of Neurology, Boston Children's Hospital, MA., El Achkar CM; From the Epilepsy Genetics Program (L.S., C.M.E.A.) and Clinical Neurophysiology Fellowship Program (J.M.P.), Division of Epilepsy (I.B.), Department of Neurology, Boston Children's Hospital, MA.
Publikováno v:
Neurology [Neurology] 2020 Jan 28; Vol. 94 (4), pp. 178-183. Date of Electronic Publication: 2020 Jan 13.
Autor:
Stergachis AB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA., Pujol-Giménez J; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Gyimesi G; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Fuster D; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Albano G; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Troxler M; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Rosenberg PA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bergin A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Peters J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., El Achkar CM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Harini C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Manzi S; Department of Pharmacy, Boston Children's Hospital, Harvard Medical School, Boston, MA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Hediger MA; Department of Nephrology and Hypertension, University Hospital Bern, Inselspital, Bern, Switzerland.; Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Publikováno v:
Annals of neurology [Ann Neurol] 2019 Jun; Vol. 85 (6), pp. 921-926. Date of Electronic Publication: 2019 Apr 26.