D-Laktat Azidose als Ursache episodischer Enzephalopathie

Autor: Tritschler, E, Janzarik, WG, Kiesel, H, Fauser, S, Rauer, S

Publikováno v: Aktuelle Neurologie; 20240101, Issue: Preprints

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.

Autor: Kagermeier T; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Graduate Training Centre of Neuroscience, University of Tübingen, 72076 Tübingen, Germany., Hauser S; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Sarieva K; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Graduate Training Centre of Neuroscience, University of Tübingen, 72076 Tübingen, Germany.; International Max Planck Research School, Graduate Training Centre of Neuroscience, University of Tübingen, 72076 Tübingen, Germany., Laugwitz L; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Groeschel S; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Janzarik WG; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Yentür Z; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Graduate Training Centre of Neuroscience, University of Tübingen, 72076 Tübingen, Germany.; International Max Planck Research School, Graduate Training Centre of Neuroscience, University of Tübingen, 72076 Tübingen, Germany.; Heidelberger Akademie der Wissenschaften, 69117 Heidelberg, Germany., Becker K; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Schöls L; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Krägeloh-Mann I; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Mayer S; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Heidelberger Akademie der Wissenschaften, 69117 Heidelberg, Germany.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2024 Jul 01; Vol. 17 (7). Date of Electronic Publication: 2024 Jul 22.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy.

Autor: Döring JH; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Saffari A; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Bast T; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Brockmann K; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Ehrhardt L; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Fazeli W; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Janzarik WG; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Klabunde-Cherwon A; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Kluger G; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Muhle H; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Pendziwiat M; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Møller RS; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Platzer K; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Santos JL; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Schröter J; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Hoffmann GF; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Kölker S; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark., Syrbe S; Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark.

Publikováno v: Neurology. Genetics [Neurol Genet] 2022 Sep 28; Vol. 8 (5), pp. e200020. Date of Electronic Publication: 2022 Sep 28 (Print Publication: 2022).

Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.

Autor: Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Škorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Necpál J; Department of Neurology, Zvolen Hospital, Slovakia., Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, Munich, Germany; School of Medicine, Institute of Human Genetics., Havránková P; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Pavelekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Haň V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Janzarik WG; Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Germany., Berweck S; Ludwig Maximilian University of Munich, Munich, Germany; Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany., Diebold I; MGZ - Medical Genetics Center Munich, Munich, Germany; Department of Pediatrics, Technical University of Munich School of Medicine, Munich, Germany., Kuster A; Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France., Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, Munich, Germany; School of Medicine, Institute of Human Genetics; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, Munich, Germany; School of Medicine, Institute of Human Genetics. Electronic address: michael.zech@mri.tum.de.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 Sep; Vol. 90, pp. 73-78. Date of Electronic Publication: 2021 Aug 11.

Cerebral Autoregulation and Neurovascular Coupling after Craniospinal Irradiation in Long-Term Survivors of Malignant Pediatric Brain Tumors of the Posterior Fossa.

Autor: Janzarik WG; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Germany., Sander M; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Germany., Rößler J; Department of Pediatric Hematology and Oncology, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Germany.; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Sommerlade L; Institute for Complex Systems and Mathematical Biology, King's College, University of Aberdeen, Aberdeen, United Kingdom., Allignol A; Institute of Statistics, Ulm University, Ulm, Germany., Reinhard M; Department of Neurology and Clinical Neurophysiology, Medical Center Esslingen, Academic Teaching Hospital of the University of Tübingen, Germany.; Department of Neurology and Neurophysiology, University Medical Center Freiburg, University of Freiburg, Germany.

Publikováno v: Neuropediatrics [Neuropediatrics] 2021 Feb; Vol. 52 (1), pp. 12-18. Date of Electronic Publication: 2020 Oct 16.