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Autor
Aggarwal, Vimla 2 Afriyie, Simone 1 Ajit, Deepa 1 Aretz, Stefan 1 Bay, Julia C 1 Bayat, Allan 1 Becker, Jessica 1 Beltran, Adriana S 1 Beltran, Alvaro A 1 Bernier, Raphael A 1 Bier, Louise 1 Bierhals, Tatjana 1 Bisulli, Francesca 1 Blevins, Amy 1 Breau, Keith A 1 Brilstra, Eva 1 Burton, Barbara K 1 Cacheiro, Pilar 1 Carvill, Gemma L 1 Caumes, Roseline 1
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*These authors contributed equally as... 1 Bioinformatics Research and Developme... 1 Carolina Institute for Developmental ... 1 Center for Individualized Medicine Ma... 1 Clinical and Translational Sciences I... 1 Department of Biochemistry Medical Co... 1 Department of Biochemistry and Biophy... 1 Department of Biomedical and Health I... 1 Department of Cell Biology and Physio... 1 Department of Clinical Genetics Cambr... 1 Department of Clinical Genetics Erasm... 1 Department of Clinical Genomics Mayo ... 1 Department of Genetics University Med... 1 Department of Genetics University of ... 1 Department of Genome Sciences Univers... 1 Department of Neurology Charles Unive... 1 Department of Neurology Columbia Univ... 1 Department of Neurology University of... 1 Department of Pathology Yale Universi... 1 Department of Pediatrics Duke Univers... 1
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Autor
Aggarwal, Vimla 2 Afriyie, Simone 1 Ajit, Deepa 1 Aretz, Stefan 1 Bay, Julia C 1 Bayat, Allan 1 Becker, Jessica 1 Beltran, Adriana S 1 Beltran, Alvaro A 1 Bernier, Raphael A 1 Bier, Louise 1 Bierhals, Tatjana 1 Bisulli, Francesca 1 Blevins, Amy 1 Breau, Keith A 1 Brilstra, Eva 1 Burton, Barbara K 1 Cacheiro, Pilar 1 Carvill, Gemma L 1 Caumes, Roseline 1
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Pracoviště
*These authors contributed equally as... 1 Bioinformatics Research and Developme... 1 Carolina Institute for Developmental ... 1 Center for Individualized Medicine Ma... 1 Clinical and Translational Sciences I... 1 Department of Biochemistry Medical Co... 1 Department of Biochemistry and Biophy... 1 Department of Biomedical and Health I... 1 Department of Cell Biology and Physio... 1 Department of Clinical Genetics Cambr... 1 Department of Clinical Genetics Erasm... 1 Department of Clinical Genomics Mayo ... 1 Department of Genetics University Med... 1 Department of Genetics University of ... 1 Department of Genome Sciences Univers... 1 Department of Neurology Charles Unive... 1 Department of Neurology Columbia Univ... 1 Department of Neurology University of... 1 Department of Pathology Yale Universi... 1 Department of Pediatrics Duke Univers... 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
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
34211179
PubMed Central
PMC8273149
DOI
10.1038/s41588-021-00886-z
PII: 10.1038/s41588-021-00886-z
Knihovny.cz E-zdroje
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of βII-spectrin in the central nervous system.
- MeSH
- dominantní geny * MeSH
- fenotyp MeSH
- genetická predispozice k nemoci * MeSH
- genetická variace * MeSH
- genetické asociační studie metody MeSH
- heterozygot MeSH
- lidé MeSH
- myši MeSH
- neurovývojové poruchy diagnóza genetika MeSH
- spektrin genetika metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- spektrin MeSH
- SPTBN1 protein, human MeSH Prohlížeč
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