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Paper Details

Clinical spectrum of <i>STX1B</i>-related epileptic disorders.
Neurology
33
2019
Epilepsy, SCN1A, SNARE motif, STX1B, cognitive deficits, developmental regression, epilepsies, epilepsy, epilepsy syndromes, febrile seizures, fever-associated epilepsies, focal epilepsy, gene, genetic generalized epilepsy, neurologic deficits, patients, syntaxin-1B
Author NameAffiliation
Adam L NumisFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Maria Roberta CilioFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Thomas DornFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Alistair T PagnamentaFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Jenny C TaylorFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Zöe PowisFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Eric W KleeFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Daniel H LowensteinFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Ingo HelbigFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
Sanjay M SisodiyaFrom the University of Tubingen (S. Wolking, Hertie Institute for Clinical Brain Research, University of Luxembourg, Children's Hospital Anna Meyer, University of Florence, Dianalund Institute for Regional Health Services (R.S.M.), University of Southern Denmark, UCL Institute of Neurology and Epilepsy Society, Children's Hospital of Philadelphia, Neurosciences Research Center of Lyon, France Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Germany Beaumont Hospital (P.W.-W.), Institute of Human Genetics (B.A.M.), and Institute of Human Genetics (M.R.C.), University of California, University Hospitals Leuven, Hvidovre Hospital, Denmark King's College Hospital (S.O., London Evelina London Children's Hospital (S.O., University of Colorado and Children's Hospital Colorado, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Germany National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, San Paolo Hospital, University of Milan Child Neuropsychiatry (F.D.), University of Verona, Italy Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., Mayo Clinic, King's College London New Medicines (M.A., UCB Pharma, UK Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Germany Research Institute for Rehabilitation, Center for Molecular Neurology, Institute Born-Bunge, University of Antwerp Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Belgium Department of Basic & Clinical Neuroscience, Institute of Psychiatry, King's College London, UK Evelina London Children's Hospital (D.K.P.), Germany Institute of Neuroscience (R.H.T.), Newcastle University Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, France NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, UK Cologne Center for Genomics (D.L.), University of Cologne, Germany Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Massachusetts General Hospital and Harvard Medical School
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