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Pracoviště: Department of Medicine Epilepsy Research Centre...

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Článek

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

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
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
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
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
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
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
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
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
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
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

Neurology. 2023 ; 100 (6) : e603-e615. [pub] 20221028

ISSN 1526-632X
Medvik
Zdroj

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

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