Current practices in the diagnosis and treatment of Rasmussen syndrome: Results of an international survey.

Autor: Stredny CM; Division of Epilepsy and Clinical Neurophysiology, Center in Neuroimmunology, Department of Neurology, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue Boston, Massachusetts 02115, USA. Electronic address: coral.stredny@childrens.harvard.edu., Steriade C; Department of Neurology, New York University Langone Health, 223 East 34th St, New York, NY, 10016, USA; Neuroscience Institute, New York University, New York, USA. Electronic address: claude.steriade@nyulangone.org., Papadopoulou MT; Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, University Hospitals of Lyon (HCL), Member of ERN EpiCARE, 59 Boulevard Pinel, 69677, Bron Cedex, Lyon, France. Electronic address: maria.papadopoulou@chu-lyon.fr., Pujar S; Neurology/Epilepsy Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormand Street, London, WC1N 3JH, UK. Electronic address: suresh.pujar@gosh.nhs.uk., Kaliakatsos M; Neurology/Epilepsy Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormand Street, London, WC1N 3JH, UK. Electronic address: marios.kaliakatsos@gosh.nhs.uk., Tomko S; Department of Neurology, St. Louis Children's Hospital, 660 South Euclid Avenue, Campus Box 8111 St. Louis, MO, 63110 USA. Electronic address: s.tomko@wustl.edu., Wickström R; Department of Women's and Children's Health, Astrid Lindgren's Children's Hospital, Karolinska Institute, 171 76 Stockholm, Sweden. Electronic address: ronny.wickstrom@ki.se., Cortina C; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, 300 Longwood Avenue Boston, MA, 02115, USA. Electronic address: christopher.cortina@childrens.harvard.edu., Zhang B; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, 300 Longwood Avenue Boston, MA, 02115, USA; Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue Boston, MA 02115, USA. Electronic address: bo.zhang@childrens.harvard.edu., Bien CG; Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Maraweg 21, 33617, Bielefeld, Germany. Electronic address: christian.bien@gmx.de.

Publikováno v: Seizure [Seizure] 2024 Sep 02; Vol. 122, pp. 153-164. Date of Electronic Publication: 2024 Sep 02.

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

Autor: Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy., Papadopoulou MT; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospital of Lyon, Member of the ERN EpiCARE, Lyon, France., Ng YS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute AND National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Ardissone A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bellusci M; Reference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12), '12 de Octubre' University Hospital, Madrid, Spain., Bertini E; Research Unit of Neuromuscular Disease, Translational Pediatrics and Clinical Genetics, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Di Vito L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Evangelista T; Department of Neuropathology, Functional Unit of Neuromuscular pathology and Department of Neuromyology, Institute of Myology, EURO-NMD coordination, Pitié-Salpêtrière Hospital, APHP Sorbonne University, Paris, France., Fons C; Epilepsy and Neurometabolics Units, Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen and Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Kornblum C; Department of Neurology, Section of Neuromuscular Diseases, University Hospital Bonn, Bonn, Germany., Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Varhaug KN; Department of Neurology, Haukeland University Hospital, Bergen, Norway., O'Callaghan M; Epilepsy and Neurometabolics Units, Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Pressler RM; UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, London, UK., Schiff M; Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, MetabERN, Paris, France.; INSERM UMRS_1163, Imagine Institute, Paris, France., Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy., Szabo N; Saint John's Hospital, Child Epilepsy Centre, Budapest, Hungary., Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute AND National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Cross JH; UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, London, UK., Rahman S; UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, London, UK.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Jul; Vol. 31 (7), pp. e16275. Date of Electronic Publication: 2024 Apr 04.

Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia.

Autor: Papadopoulou MT; 4th Pediatric Department, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Ring Road, Nea Efkarpia, 56403 Thessaloniki, Greece.; Woman-Mother-Child Hospital, University Hospitals of Lyon, 69500 Bron, France., Panagopoulou P; 4th Pediatric Department, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Ring Road, Nea Efkarpia, 56403 Thessaloniki, Greece., Paramera E; NEOLAB S.A., Medical Laboratory, 11527 Athens, Greece., Pechlivanis A; Department of Chemistry, Aristotle University of Thessaloniki, 54635 Thessaloniki, Greece.; BIOMIC_Auth, Center for Interdisciplinary Research of the Aristotle University of Thessaloniki (CIRI), Balkan Center, 10th Km Thessaloniki-Thermi Rd, P.O. Box 8318, 57001 Thessaloniki, Greece., Virgiliou C; BIOMIC_Auth, Center for Interdisciplinary Research of the Aristotle University of Thessaloniki (CIRI), Balkan Center, 10th Km Thessaloniki-Thermi Rd, P.O. Box 8318, 57001 Thessaloniki, Greece.; Analytical Chemistry Laboratory, Department of Chemical Engineering, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Papakonstantinou E; Department of Pediatric Oncology, Ippokratio General Hospital, 54642 Thessaloniki, Greece., Palabougiouki M; Pediatric & Adolescents Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Ioannidou M; Pediatric & Adolescents Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Vasileiou E; Pediatric & Adolescents Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Tragiannidis A; Pediatric & Adolescents Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Papakonstantinou E; NEOLAB S.A., Medical Laboratory, 11527 Athens, Greece., Theodoridis G; Department of Chemistry, Aristotle University of Thessaloniki, 54635 Thessaloniki, Greece.; BIOMIC_Auth, Center for Interdisciplinary Research of the Aristotle University of Thessaloniki (CIRI), Balkan Center, 10th Km Thessaloniki-Thermi Rd, P.O. Box 8318, 57001 Thessaloniki, Greece., Hatzipantelis E; Pediatric & Adolescents Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece., Evangeliou A; 4th Pediatric Department, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Ring Road, Nea Efkarpia, 56403 Thessaloniki, Greece.; St Luke's Hospital S.A., 55236 Pannorama, Greece.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2024 Mar 24; Vol. 14 (7). Date of Electronic Publication: 2024 Mar 24.

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.

Autor: Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy. michelangelo.mancuso@unipi.it., Lopriore P; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Ziemssenstraße 1a, 80336, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Rahman S; UCL Great Ormond Street Institute of Child Health, London, UK., Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Kornblum C; Department of Neurology, University Hospital Bonn, 53127, Bonn, Germany., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Dollfus H; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, ERN-EYE coordination, UMRS_1112 Institut de Génétique Médicale d'AlsaceI, GMA 67000, Strasbourg, France., Papadopoulou MT; Paediatric Epilepsy Department, ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Arzimanoglou A; Paediatric Epilepsy Department, ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.; Neurology Department, Epilepsy unit, ERN EpiCARE coordination, Hospital San Juan de Dios, Barcelona, Spain., Scarpa M; Regionale Coordinating center for rare Diseases, MetabERN coordination, University Hospital Udine, Udine, Italy., Graessner H; Institute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, ERN RND coordination, University Hospital Tübingen, Tübingen, Germany., Evangelista T; Institute of Myology, EURO-NMD coordination, Pitié-Salpêtrière Hospital, APHP Sorbonne University, Paris, France.

Publikováno v: Journal of neurology [J Neurol] 2024 Feb; Vol. 271 (2), pp. 835-840. Date of Electronic Publication: 2023 Oct 13.

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.

Autor: Patel SH; Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Duke University, Durham, NC, USA., Panagiotakaki E; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Papadopoulou MT; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Fons C; Department of Child Neurology, Sant Joan de Déu Children's Hospital, Member of the ERN EpiCARE, Barcelona, Spain., De Grandis E; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy., Vezyroglou A; Department of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK., Balestrini S; Department of Clinical and Experimental Epilepsy, University College of London (UCL), Queen Square Institute of Neurology, London, UK., Hong H; Department of Biostatistics & Bioinformatics, Duke University, Durham, NC, USA., Liu B; Department of Biostatistics & Bioinformatics, Duke University, Durham, NC, USA., Prange L; Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Duke University, Durham, NC, USA., Arzimanoglou A; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Vavassori R; Euro Mediterranean Institute of Science and Technology IEMEST, Palermo, Italy.; Association AHC18+ e.V., member of the ERN EpiCARE Patient Advocacy Group (ePAG), Germany., Mikati MA; Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Duke University, Durham, NC, USA.; Department of Neurobiology, Duke University, Durham, NC, USA.

Publikováno v: Journal of child neurology [J Child Neurol] 2023 Oct; Vol. 38 (10-12), pp. 597-610. Date of Electronic Publication: 2023 Sep 20.