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Autor
Aggarwal, Vimla 1 Alberti, Antonino 1 Anderlid, Britt-Marie 1 Avola, Emanuela 1 Barnett, Christopher 1 Bayat, Allan 1 Bernier, Raphael A 1 Bisulli, Francesca 1 Burton, Barbara K 1 Carvill, Gemma L 1 Caumes, Roseline 1 Coe, Bradley P 1 Colin, Estelle 1 Collet, Corinne 1 Couque, Nathalie 1 Courchesne, Eric 1 Datta, Anita N 1 Eichler, Evan E 1 Elder, Christopher 1 Ellard, Sian 1
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Pracoviště
*These authors contributed equally as... 1 Center for Applied Genomics The Child... 1 Centre for Human Genetics KU Leuven a... 1 Department of Biology and Medical Gen... 1 Department of Clinical Genetics Karol... 1 Department of Clinical Genetics Leide... 1 Department of Genome Sciences Univers... 1 Department of Medical Genetics Univer... 1 Department of Molecular Medicine and ... 1 Department of Pediatrics Perelman Sch... 1 Department of Pharmacology University... 1 Department of Psychiatry The Universi... 1 Department of Psychiatry and Behavior... 1 Division of Genetics The Children's H... 1 From the Ken and Ruth Davee Departmen... 1 Howard Hughes Medical Institute Seatt... 1 Laboratory of Medical Genetics IRCCS ... 1 Robinson Research Institute and the U... 1 SA Pathology Adelaide South Australia... 1 School of Medicine University of Adel... 1
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Autor
Aggarwal, Vimla 1 Alberti, Antonino 1 Anderlid, Britt-Marie 1 Avola, Emanuela 1 Barnett, Christopher 1 Bayat, Allan 1 Bernier, Raphael A 1 Bisulli, Francesca 1 Burton, Barbara K 1 Carvill, Gemma L 1 Caumes, Roseline 1 Coe, Bradley P 1 Colin, Estelle 1 Collet, Corinne 1 Couque, Nathalie 1 Courchesne, Eric 1 Datta, Anita N 1 Eichler, Evan E 1 Elder, Christopher 1 Ellard, Sian 1
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Pracoviště
*These authors contributed equally as... 1 Center for Applied Genomics The Child... 1 Centre for Human Genetics KU Leuven a... 1 Department of Biology and Medical Gen... 1 Department of Clinical Genetics Karol... 1 Department of Clinical Genetics Leide... 1 Department of Genome Sciences Univers... 1 Department of Medical Genetics Univer... 1 Department of Molecular Medicine and ... 1 Department of Pediatrics Perelman Sch... 1 Department of Pharmacology University... 1 Department of Psychiatry The Universi... 1 Department of Psychiatry and Behavior... 1 Division of Genetics The Children's H... 1 From the Ken and Ruth Davee Departmen... 1 Howard Hughes Medical Institute Seatt... 1 Laboratory of Medical Genetics IRCCS ... 1 Robinson Research Institute and the U... 1 SA Pathology Adelaide South Australia... 1 School of Medicine University of Adel... 1
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Nejvíce citovaný článek - PubMed ID 23647072
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Happ, Hannah C
Autor Happ, Hannah C ORCID *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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Sadleir, Lynette G
Autor Sadleir, Lynette G *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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Zemel, Matthew
Autor Zemel, Matthew *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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de Valles-Ibáñez, Guillem
Autor de Valles-Ibáñez, Guillem *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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Hildebrand, Michael S
Autor Hildebrand, Michael S *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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McConkie-Rosell, Allyn
Autor McConkie-Rosell, Allyn *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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McDonald, Marie
Autor McDonald, Marie *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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May, Halie
Autor May, Halie *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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Sands, Tristan
Autor Sands, Tristan *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
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Aggarwal, Vimla
Autor Aggarwal, Vimla *These authors contributed equally as first authors †These authors contributed equally as senior authors From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Duke University Medical Center (A.M.-R., M.M.), Durham, NC; Institute for Genomic Medicine (H.M., T.S.), Columbia University Irving Medical Center, New York, NY; Departments of Pathology and Cell Biology (V.A.), and Neurology (C.E.), Columbia University Irving Medical Center, New York, NY; Gillette Children's Specialty Healthcare (T.F.), St. Paul, MN; Department of Epilepsy Genetics and Personalized Medicine (A.B., R.S.M., C.D.F.), Danish Epilepsy Center, Dianalund, Denmark; Institute of Regional Health Research (A.B., R.S.M.), University of Southern Denmark; Amplexa Genetics (C.D.F.), Odense, Denmark; Department of Clinical Medicine (J.E.K.N.), Zealand University Hospital, Roskilde, Denmark; University of British Columbia (A.N.D.), Vancouver, Canada; The Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K.), Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science (K.M.G., M.D.K.), University College Dublin, Ireland; Genuity Science (N.L.), Dublin, Ireland; Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., A.P.), Chicago, IL; Department of Pediatrics (B.K.B., A.P., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; Exeter Genomics Laboratory (S.E.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom; Department Clinical Genetics (J.R.), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Department of Medical Genetics (A.S., P.M.), Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India; Center for Individualized Medicine (R.J.O., K.M., L.A.S.), Mayo Clinic, Rochester, MN; Departments of Clinical Genomics (K.M., L.A.S.), and Neurology (K.S.), Mayo Clinic, Rochester, MN; Neurogenetic Laboratory (L.S., P.J.), Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Epilepsy Research Centre Prague-EpiReC Consortium (L.S., K.S., M.V., P.L., A.J.); Motol University Hospital is a full member of the ERN EpiCARE; Department of Pediatric Neurology (K.S., A.J.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Biology and Medical Genetics (M.V.), Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic; Stanford University School of Medicine (B.E.P.), Palo Alto, CA; Laboratoire de Biologie médicale multisites Seqoia-FMG2025 (N.C., C.C.), Laboratoire Génétique Moléculaire Robert-Debré, Paris, France; Service de Génétique (E.C., C.P.), CHU d'Angers, Angers, France; University Lille (T.S.), CHU Lille, ULR7364-RADEME, Institut de Genetique Medicale, France; University Lille (R.C.), CHU Lille, ULR7364-RADEME, Clinique de Genetique, France; Univeristy Medical Center Groningen (F.V.), Groningen, the Netherlands; Department of Biomedical and NeuroMotor Sciences (F.B.), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., L.L.), Full Member of the ERN EpiCARE Bologna, Italy; GeneDx (R.P., E.T., K.M.), Gaithersburg, MD; T.Y. Nelson Department of Neurology and Neurosurgery (R.W.), Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Medical Genetics (G.L.), University Hospital of Lyon, Claude Bernard Lyon 1 University, France; INSERM, Aix-Marseille University (P.S.), INMED, France; Department of Neurology (I.E.S.), Royal Children's Hospital, Department of Paediatrics, The University of Melbourne, and Murdoch Children's Research Institute, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Victoria, Australia; Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL
PubMed
36307226
PubMed Central
PMC9946193
DOI
10.1212/wnl.0000000000201492
PII: WNL.0000000000201492
Knihovny.cz E-zdroje
BACKGROUND AND OBJECTIVES: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. METHODS: We screened 893 individuals with developmental and epileptic encephalopathies for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified through an international collaboration. Clinical history, EEG, and imaging data were analyzed; seizure types and epilepsy syndromes were classified. We included 3 previously published individuals including additional phenotypic details. RESULTS: We report a cohort of 17 patients, including 9 with a recurrent de novo missense variant p.Arg327His, 4 with a recurrent missense variant p.Arg333His, and 4 additional novel missense variants. All variants were located in or near the functionally critical voltage-sensing or pore domains, absent in the general population, and classified as pathogenic or likely pathogenic using the American College of Medical Genetics and Genomics criteria. All individuals presented with epilepsy with a median seizure onset at 6 months. They had a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes ranged from normal intellect to profound impairment. Individuals with the recurrent p.Arg333His variant had a self-limited drug-responsive focal or generalized epilepsy and normal intellect, whereas the recurrent p.Arg327His variant was associated with infantile-onset DEE. Two individuals with variants in the pore domain were more severely affected, with a neonatal-onset movement disorder, early-infantile DEE, profound disability, and childhood death. DISCUSSION: We describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging genotype-phenotype correlation with a spectrum of epilepsy and cognitive outcomes. Overall, we expand the role of EAG proteins in human disease and establish KCNH5 as implicated in a spectrum of neurodevelopmental disorders and epilepsy.
- MeSH
- dítě MeSH
- draslíkové kanály ether-a-go-go * genetika MeSH
- epilepsie generalizovaná * genetika MeSH
- epilepsie * genetika MeSH
- fenotyp MeSH
- lidé MeSH
- mutace MeSH
- novorozenec MeSH
- záchvaty genetika MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- draslíkové kanály ether-a-go-go * MeSH
- KCNH5 protein, human MeSH Prohlížeč
PubMed
28628100
PubMed Central
PMC5539915
DOI
10.1038/nn.4589
PII: nn.4589
Knihovny.cz E-zdroje
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations. One recurrent site substitution (p.A636T) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.
- MeSH
- AMPA receptory genetika MeSH
- autistická porucha genetika MeSH
- exom genetika MeSH
- genetická predispozice k nemoci * MeSH
- glutamátové receptory genetika MeSH
- lidé MeSH
- missense mutace genetika MeSH
- sekvence aminokyselin genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- AMPA receptory MeSH
- glutamate receptor ionotropic, AMPA 1 MeSH Prohlížeč
- glutamátové receptory MeSH
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