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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

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第一作者: Davide,Mei
第一单位: Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCSS, Florence, Italy.
作者单位: Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCSS, Florence, Italy. [1] Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCSS, Florence, Italy.;University of Florence, Florence, Italy. [2] Dipartimento di Scienze Mediche e Chirurgiche, Università degli Studi Magna Graecia, Catanzaro, Italy. [3] Institute for Biomedical Research and Innovation, National Research Council, Cosenza, Italy. [4] Brain and Behavioral Sciences Department, University of Pavia, Pavia, Italy.;Childhood and Adolescence Epilepsy Center, Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, ERN EpiCARE Full Member, Pavia, Italy. [5] Neurogenetics Research Center, IRCCS Mondino Foundation, ERN EpiCARE Full Member, Pavia, Italy. [6] Laboratory of Genetics, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Bosisio Parini, Italy. [7] Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy. [8] Oasi Research Institute - IRCCS, Troina, Italy. [9] Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. [10] Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. [11] Department of Women/Child Health and Urological Sciences, Sapienza University of Rome, Rome, Italy.;Unit of Child Neurology and Psychiatry-Department of Neurosciences/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy. [12] Unit of Child Neurology and Psychiatry-Department of Neurosciences/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy.;Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy. [13] Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. [14] Child Neurology and Epileptology, S. Michele Hospital, ASL Cagliari, Cagliari, Italy. [15] Medical Genetics, R. Binaghi Hospital, ASL Cagliari, Cagliari, Italy. [16] Child neurology and psychiatric unit, Pediatric Hospital G. Salesi; AOU delle Marche, Ancona, Italy. [17] IRCCS Istituto Giannina Gaslini, Full Member of European Reference Network EpiCARE, Genova, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy. [18] IRCCS Istituto delle Scienze Neurologiche di Bologna, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Full member of the ERN EpiCARE, Bologna, Italy. [19] Child Neurology and Psychiatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy. [20] UOC Neuropsichiatria Infantile, Ospedale della Donna e del Bambino c/o Ospedale Civile Maggiore, AOUI Verona, Full member of ERN EpiCARE, Verona, Italy.;Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy. [21] Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of ERN EpiCARE, Rome, Italy. [22] Claudio Munari Epilepsy Surgery Center, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy. [23] Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCSS, Florence, Italy renzo.guerrini@meyer.it.;University of Florence, Florence, Italy. [24]
关键词 EpilepsyGenomics
DOI 10.1136/jmg-2024-110328
PMID 39613335
发布时间 2025-03-06
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Journal of medical genetics

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