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Autor
Ellard, Sian 6 Barák, Ľ 2 Gašperíková, D 2 Hattersley, Andrew T 2 Staník, J 2 Abdullah, Mohamed A 1 Aggarwal, Vimla 1 Al Saif, Ramlah 1 Bayat, Allan 1 Bisulli, Francesca 1 Boyadzhiev, Veselin 1 Burton, Barbara K 1 Carvill, Gemma L 1 Caumes, Roseline 1 Colclough, Kevin 1 Colin, Estelle 1 Colindres, Lesby E 1 Collet, Corinne 1 Couque, Nathalie 1 Datta, Anita N 1
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Pracoviště
*These authors contributed equally as... 1 Amplexa Genetics Odense Denmark 1 Ann and Robert H Lurie Children's Hos... 1 Biology and Medical Genetics 2nd Facu... 1 Center for Individualized Medicine Ma... 1 Center for Pediatric Neurological Dis... 1 DIABGENE a Laboratórium diabetu a výž... 1 DIABGENE a Laboritórium diabetu a výž... 1 Department Clinical Genetics Royal De... 1 Department of Biomedical and NeuroMot... 1 Department of Clinical Medicine Zeala... 1 Department of Epilepsy Genetics and P... 1 Department of Genetics and Medicine H... 1 Department of Medical Genetics Kastur... 1 Department of Medical Genetics Univer... 1 Department of Medicine Epilepsy Resea... 1 Department of Neurology Royal Childre... 1 Department of Paediatrics 2nd Faculty... 1 Department of Paediatrics Charles Uni... 1 Department of Pediatric Neurology 2nd... 1
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Autor
Ellard, Sian 6 Barák, Ľ 2 Gašperíková, D 2 Hattersley, Andrew T 2 Staník, J 2 Abdullah, Mohamed A 1 Aggarwal, Vimla 1 Al Saif, Ramlah 1 Bayat, Allan 1 Bisulli, Francesca 1 Boyadzhiev, Veselin 1 Burton, Barbara K 1 Carvill, Gemma L 1 Caumes, Roseline 1 Colclough, Kevin 1 Colin, Estelle 1 Colindres, Lesby E 1 Collet, Corinne 1 Couque, Nathalie 1 Datta, Anita N 1
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Pracoviště
*These authors contributed equally as... 1 Amplexa Genetics Odense Denmark 1 Ann and Robert H Lurie Children's Hos... 1 Biology and Medical Genetics 2nd Facu... 1 Center for Individualized Medicine Ma... 1 Center for Pediatric Neurological Dis... 1 DIABGENE a Laboratórium diabetu a výž... 1 DIABGENE a Laboritórium diabetu a výž... 1 Department Clinical Genetics Royal De... 1 Department of Biomedical and NeuroMot... 1 Department of Clinical Medicine Zeala... 1 Department of Epilepsy Genetics and P... 1 Department of Genetics and Medicine H... 1 Department of Medical Genetics Kastur... 1 Department of Medical Genetics Univer... 1 Department of Medicine Epilepsy Resea... 1 Department of Neurology Royal Childre... 1 Department of Paediatrics 2nd Faculty... 1 Department of Paediatrics Charles Uni... 1 Department of Pediatric Neurology 2nd... 1
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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
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
Medline Complete (EBSCOhost) od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 1999-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 1999-01-01 do Před 1 rokem
PubMed
29450569
DOI
10.1007/s00125-018-4554-x
Knihovny.cz E-zdroje
AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1) in a cohort of individuals with TRMA-related diabetes. METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire. RESULTS: We identified 24 different mutations, of which nine are novel. The onset of the first TRMA symptom ranged from birth to 4 years (median 6 months [interquartile range, IQR 3-24]) and median age at diabetes onset was 10 months (IQR 5-27). At presentation, three individuals had isolated diabetes and 12 had asymptomatic hyperglycaemia. Follow-up data was available for 15 individuals treated with thiamine for a median 4.7 years (IQR 3-10). Four patients were able to stop insulin and seven achieved better glycaemic control on lower insulin doses. These 11 patients were significantly younger at diabetes diagnosis (p = 0.042), at genetic testing (p = 0.01) and when starting thiamine (p = 0.007) compared with the rest of the cohort. All patients treated with thiamine became transfusion-independent and adolescents achieved normal puberty. There were no additional benefits of thiamine doses >150 mg/day and no reported side effects up to 300 mg/day. CONCLUSIONS/INTERPRETATION: In TRMA syndrome, diabetes can be asymptomatic and present before the appearance of other features. Prompt recognition is essential as early treatment with thiamine can result in improved glycaemic control, with some individuals becoming insulin-independent. DATA AVAILABILITY: SLC19A2 mutation details have been deposited in the Decipher database ( https://decipher.sanger.ac.uk/ ).
- MeSH
- alely MeSH
- diabetes mellitus farmakoterapie genetika MeSH
- farmakogenetika * MeSH
- fenotyp MeSH
- genetické testování MeSH
- genotyp MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- megaloblastová anemie farmakoterapie genetika MeSH
- membránové transportní proteiny genetika MeSH
- mutace MeSH
- nedostatek thiaminu vrozené farmakoterapie genetika MeSH
- percepční nedoslýchavost farmakoterapie genetika MeSH
- předškolní dítě MeSH
- průzkumy a dotazníky MeSH
- thiamin terapeutické užití MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
Freely Accessible Science Journals od 2000 do Před 1 rokem
PubMed Central od 2008-07-01 do Před 12 měsíci
Open Access Digital Library od 1998-01-01
Open Access Digital Library od 2000-01-01
Medline Complete (EBSCOhost) od 1952-01-01
PubMed
27486234
DOI
10.2337/db16-0628
Knihovny.cz E-zdroje
HNF4A mutations cause increased birth weight, transient neonatal hypoglycemia, and maturity onset diabetes of the young (MODY). The most frequently reported HNF4A mutation is p.R114W (previously p.R127W), but functional studies have shown inconsistent results; there is a lack of cosegregation in some pedigrees and an unexpectedly high frequency in public variant databases. We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI 9.79-125, P = 2 × 10(-21)) for diabetes in our MODY cohort compared with control subjects. p.R114W heterozygotes did not have the increased birth weight of patients with other HNF4A mutations (3,476 g vs. 4,147 g, P = 0.0004), and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P = 0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compared with 71% for other HNF4A mutations. We redefine p.R114W as a pathogenic mutation that causes a distinct clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatment, and no effect on birth weight. This has implications for diabetes treatment, management of pregnancy, and predictive testing of at-risk relatives. The increasing availability of large-scale sequence data is likely to reveal similar examples of rare, low-penetrance MODY mutations.
- MeSH
- diabetes mellitus 2. typu farmakoterapie genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci genetika MeSH
- haplotypy genetika MeSH
- hepatocytární jaderný faktor 4 genetika MeSH
- hypoglykemika terapeutické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace genetika MeSH
- odds ratio MeSH
- porodní hmotnost genetika fyziologie MeSH
- senioři MeSH
- sulfonylmočovinové sloučeniny terapeutické užití MeSH
- výpočetní biologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
12th ed. xii, 443 s. : il.
Knihovny.cz ISBN
0-443-10045-4
- Konspekt
- Obecná genetika. Obecná cytogenetika. Evoluce
- NLK Obory
- genetika, lékařská genetika
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Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.