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Paper Details

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.
Neurology
6
2023
Author NameAffiliation
Lynette G Sadleir
Lynette G SadleirNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Lynette G Sadleir
Michael S Hildebrand
Michael S HildebrandNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Michael S Hildebrand
Allyn McConkie-Rosell
Allyn McConkie-Rosell
Allyn McConkie-RosellNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Tristan T Sands
Tristan T Sands
Tristan T SandsNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Timothy Feyma
Timothy Feyma
Timothy FeymaNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Kathleen M Gorman
Kathleen M Gorman
Kathleen M GormanNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Sian Ellard
Sian Ellard
Sian EllardNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Marketa Vlckova
Marketa Vlckova
Marketa VlckovaNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Elizabeth E Gerard
Elizabeth E Gerard
Elizabeth E GerardNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
Ingrid E Scheffer
Ingrid E Scheffer
Ingrid E SchefferNorthwestern University Feinberg School of Medicine, IL University of Otago (L.G.S.), New Zealand University of Washington (M.Z.), Epilepsy Research Centre, The University of Melbourne, Australia Duke University Medical Center (A.M.-R., NC Institute for Genomic Medicine (H.M., Columbia University Irving Medical Center, Denmark Institute of Regional Health Research (A.B., University of Southern Denmark Amplexa Genetics (C.D.F.), Zealand University Hospital, Denmark University of British Columbia (A.N.D.), Canada The Department of Neurology and Clinical Neurophysiology (K.M.G., Ireland School of Medicine and Medical Science (K.M.G., University College Dublin, Ireland Ann & Robert H. Lurie Children's Hospital of Chicago (B.K.B., Royal Devon University Healthcare NHS Foundation Trust, United Kingdom Institute of Clinical and Biomedical Science (S.E.), University of Exeter, United Kingdom Department Clinical Genetics (J.R.), Kasturba Medical College, Manipal Academy of Higher Education, India Center for Individualized Medicine (R.J.O., Mayo Clinic, MN Departments of Clinical Genomics (K.M., Charles University in Prague and Motol University Hospital, Czech Republic Epilepsy Research Centre Prague-EpiReC Consortium (L.S., A.J.) Motol University Hospital is a full member of the ERN EpiCARE Department of Pediatric Neurology (K.S., Czech Republic Stanford University School of Medicine (B.E.P.), France University Lille (T.S.), Institut de Genetique Medicale, France University Lille (R.C.), France Univeristy Medical Center Groningen (F.V.), University of Bologna, Italy IRCCS Istituto delle Scienze Neurologiche di Bologna (F.B., Children's Hospital at Westmead, University Hospital of Lyon, Claude Bernard Lyon 1 University, France INSERM, Aix-Marseille University (P.S.), Royal Children's Hospital, and Murdoch Children's Research Institute, Australia The Florey Institute of Neuroscience and Mental Health (I.E.S.), Australia Center for Pediatric Neurological Disease Research (H.C.M.), St. Jude Children's Research Hospital
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