ArticleNeurology. Genetics2017
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
4.4field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 41 citations in OpenAlex.
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 8 institutions in 8 countries.
Michael AlberDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Vera M KalscheuerDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Elysa MarcoDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Elliott SherrDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Gaetan LescaDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Marianne TillDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Gyri GradekDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Antje WiesenerDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Christoph KorenkeDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Sandra MercierDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Felicitas BeckerDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Toshiyuki YamamotoDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Stephen W SchererDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Christian R MarshallDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Susan WalkerDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Usha R DuttaDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ashwin B DalalDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Vanessa SuckowDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Payman JamaliDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kimia KahriziDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hossein NajmabadiDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Berge A MinassianDepartment of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hospices Civils de Lyon · FRHaukeland University Hospital · NOUniversitätsklinikum Erlangen · DEUniversity of California, San Francisco · USUniversity of Toronto · CACentre for DNA Fingerprinting and Diagnostics · INTokyo Women's Medical University · JPUniversity of Social Welfare and Rehabilitation Sciences · IR
Funding
Suppressing glycogen storage with small molecule inhibitors as a therapeutic approach to Lafora DiseaseP01NS097197 · NINDS · UNIVERSITY OF KENTUCKY · PI GAO, TIANYAN · 2016 to 2021
$9.0MNINDS NIH HHS P01 NS097197
Abstract
objectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of
methodsPatients with mutations or chromosomal disruptions affecting
resultsA total of 18 patients (including 5 females) were identified. Six had de novo, 5 had maternally inherited mutations, and 7 had chromosomal disruptions. All females had strongly skewed X-inactivation in favor of the abnormal X-chromosome. Symptoms presented in early childhood with delayed motor development alone or in combination with seizures. Intellectual disability was severe in most and moderate in patients with milder mutations. Males with severe intellectual disability had severe, often intractable, epilepsy and exhibited a particular facial dysmorphism. Patients with mutations in exon 9 affecting the protein's PH domain did not develop epilepsy.
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