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Autor: Cantalupo, Gaetano

1 záznamů v Medvik Filtry

Článek

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Stamberger, Hannah
Autor Stamberger, Hannah From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia. hannah.stamberger@uantwerpen.be
Crosiers, David
Autor Crosiers, David From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Balagura, Ganna
Autor Balagura, Ganna ORCID From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Bonardi, Claudia M
Autor Bonardi, Claudia M ORCID From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Basu, Anna
Autor Basu, Anna From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Cantalupo, Gaetano
Autor Cantalupo, Gaetano ORCID From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Chiesa, Valentina
Autor Chiesa, Valentina From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Christensen, Jakob
Autor Christensen, Jakob ORCID From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Dalla Bernardina, Bernardo
Autor Dalla Bernardina, Bernardo From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
Ellis, Colin A
Autor Ellis, Colin A From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and μNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy Population Health Sciences Institute (A.B.), Newcastle University Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy Department of Clinical Medicine (J.C.), Aarhus University Department of Neurology (J.C.), Aarhus University Hospital, Denmark Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic The GOLD Service (M.L.), Waratah, New South Wales, Australia Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark Department of Neurology (L.M.), University Hospital of St-Etienne Team "Central Integration of Pain" (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France Kinderklinik Dritter Orden (C.S.), Passau, Germany Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW Sydney Children's Hospital Network (E.P.), Randwick, Australia Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia

Neurology. 2022 ; 99 (3) : e221-e233. [pub] 20220603

ISSN 1526-632X
Medvik
Zdroj

BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence. METHODS: In this observational study, patients with a minimum age of 18 years carrying a (likely) pathogenic STXBP1 variant were recruited through medical genetics departments and epilepsy centers. Treating clinicians completed clinical questionnaires and performed semistructured video examinations while performing tasks from the (modified) Unified Parkinson Disease Rating Scale when possible. RESULTS: Thirty adult patients were included for summary statistics, with video recordings available for 19 patients. The median age at last follow-up was 24 years (range 18-58 years). All patients had epilepsy, with a median onset age of 3.5 months. At last follow-up, 80% of adults had treatment-resistant seizures despite long periods of seizure freedom in 37%. Tonic-clonic, focal, and tonic seizures were most frequent in adults. Epileptic spasms, an unusual feature beyond infancy, were present in 3 adults. All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity. Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. Video examinations showed gait disorders in all 12 patients able to walk, including postural abnormalities with external rotation of the feet, broad-based gait, and asymmetric posture/dystonia. Tremor, present in 56%, was predominantly of the intention/action type. Stereotypies were seen in 63%. Functional outcome concerning mobility was variable ranging from independent walking (50%) to wheelchair dependence (39%). Seventy-one percent of adults were nonverbal, and all were dependent on caregivers for most activities of daily living. DISCUSSION: STXBP1-DEE warrants continuous monitoring for seizures in adult life. Periods of regression are more frequent than previously established and can occur into adulthood. Movement disorders are often present and involve multiple systems. Although functional mobility is variable in adulthood, STXBP1-DEE frequently leads to severe cognitive impairments and a high level of functional dependence. Understanding the natural history of STXBP1-DEE is important for prognostication and will inform future therapeutic trials.

MeSH
činnosti denního života MeSH
dospělí MeSH
elektroencefalografie MeSH
epilepsie * MeSH
kojenec MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
mutace MeSH
pohybové poruchy * genetika MeSH
proteiny Munc18 * genetika MeSH
záchvaty genetika MeSH
Check Tag
dospělí MeSH
kojenec MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
Publikační typ
časopisecké články MeSH
pozorovací studie MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

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