Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Autor: Johannesen, Km, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, Al, Ville, Dm, Chatron, N, Brilstra, E, Geleijns, K, Born, Ap, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, Kl, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, Jr, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G, Møller, Rs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______310::a538ac3dabfcc002c6761bae3e1379b3
http://hdl.handle.net/2158/1192687

PRM116 - GENERAL PERCEPTIONS OF INNOVATIVE METHODS FOR SURVIVAL EXTRAPOLATION IN ONCOLOGY AMONG HTA IN EUROPE, CANADA AND AUSTRALIA

Autor: Pochopien, M, Contente, M, Toumi, M, Sherman, S, Aballea, S, Lach, S, Pisarczyk, K, Johannesen, KM, Malcolm, B

Publikováno v: In Value in Health October 2018 21 Supplement 3:S375-S376

Sleep disturbances in SCN8A-related disorders.

Autor: Furia F; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark., Bonardi CM; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Previtali R; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Mastrangelo M; IRCCS Policlinico San Donato, Milan, Italy., Favaro J; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.; Paediatric Neurology and Neurophysiology Unit, University Hospital of Padua, Italy., Masnada S; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., di Micco V; Epilepsy and Movement Disorders Neurology Unit, Bambino Gesú Children Hospital, IRCCS, Rome, Italy., Proietti J; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.; Child Neuropsychiatry Unit, University Hospital of Verona, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age (CREP), University Hospital of Verona, Verona, Italy.; Full Member of the European Reference Network EpiCARE, Barcelona, Spain., Veggiotti P; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.; Full Member of the European Reference Network EpiCARE, Barcelona, Spain.; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Cantalupo G; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.; Child Neuropsychiatry Unit, University Hospital of Verona, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age (CREP), University Hospital of Verona, Verona, Italy.; Full Member of the European Reference Network EpiCARE, Barcelona, Spain., Olofsson K; Department of Pediatric Epilepsy, Danish Epilepsy Center, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Full Member of the European Reference Network EpiCARE, Barcelona, Spain., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Full Member of the European Reference Network EpiCARE, Barcelona, Spain.; Department of Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Oct 03. Date of Electronic Publication: 2024 Oct 03.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Autor: Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy., Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Ugga L; Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., D'Amico A; Department of Radiology, 'Tortorella' private hospital, Salerno, Italy., Cabet S; Pediatric and Fetal Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Bilo L; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., Iliescu C; Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Barca D; Department of Pediatric Neurology, Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, Bucharest, Romania., Fung F; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Helbig K; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Ortiz-Gonzalez X; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Schelhaas HJ; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Linden I; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Courage C; Folkhälsan Research Center, Helsinki, Finland.; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gommaraschi S; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Syrbe S; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schuler E; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Vari S; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Roende G; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshopitalet, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Huq M; Department of Pediatrics, Wayne State University, Detroit, Michigan, USA., Powis Z; Ambry Genetics, Department of Emerging Genetic Medicine, CGC 15 Argonaut, Aliso Viejo, California, USA., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Zupanc ML; Children's Health of Orange County, Orange, California, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, California, USA., Cohen J; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Saneto R; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA., Thies J; Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Licchetta L; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Tinuper P; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Bisulli F; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Minardi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Molinari F; Biolab, PolitoBIOMedLab, Department of Electronics and Telecommunications, Politecnico di Torino, Turin, Italy., Salimi Dafsari H; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Cologne, Cologne, Germany.; Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK., Moller B; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU, Angers, France., Houdayer C; Service de Génétique Médicale, Université d'Angers, CHU d'Angers, Inserm, CNRS, MITOVASC, SFR ICAT, Angers, France., Vecchi M; University of Padua, Padua, Italy., Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy., Fiorini E; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Proietti J; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Ferri S; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy., Cantalupo G; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Battaglia DI; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Gambardella ML; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Contaldo I; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Brogna C; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Neuropsychiatric Unit, ASL Avellino, Avellino, Italy., Trivisano M; Neurology, Epilepsy, and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, full member of the EpiCARE European Reference Network, Rome, Italy., De Dominicis A; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Bova SM; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Coppola A; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.

Publikováno v: Epilepsia [Epilepsia] 2024 Sep; Vol. 65 (9), pp. 2728-2750. Date of Electronic Publication: 2024 Jul 02.

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Autor: Silva DB; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA., Trinidad M; BioMarin Pharmaceutical Inc., Novato, CA, USA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA; Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA, USA., Ljungdahl A; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford OX3 7TY, UK., Revalde JL; Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA, USA., Berguig GY; BioMarin Pharmaceutical Inc., Novato, CA, USA., Wallace W; BioMarin Pharmaceutical Inc., Novato, CA, USA., Patrick CS; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Bomba L; BioMarin Pharmaceutical Inc., Novato, CA, USA., Arkin M; Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA, USA., Dong S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Estrada K; BioMarin Pharmaceutical Inc., Novato, CA, USA., Hutchinson K; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., LeBowitz JH; BioMarin Pharmaceutical Inc., Novato, CA, USA., Schlessinger A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Johannesen KM; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Møller RS; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark., Giacomini KM; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA., Froelich S; BioMarin Pharmaceutical Inc., Novato, CA, USA., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford OX3 7TY, UK. Electronic address: stephan.sanders@paediatrics.ox.ac.uk., Wuster A; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: arthur.wuster@bmrn.com.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1222-1238. Date of Electronic Publication: 2024 May 22.