Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

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Title: Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Authors: Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Fanella M; Fabrizio Spaziani Hospital, Frosinone, Italy., Chaumette B; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada., Putotto C; Department of Maternal, Infantile, and Urological Sciences, Sapienza University of Rome, Rome, Italy., Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism', Paris, France., Mazzeo A; IRCCS Neuromed, Pozzilli, Italy., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Accinni T; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Louveau C; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France., Giovannetti A; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy., Pugnaloni F; Research Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, Rome, Italy., Gavaret M; Service de Neurophysiologie Clinique, Groupe Hospitalier Universitaire Paris Psychiatrie et Neurosciences, Paris, France., Di Fabio F; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Fortunato F; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Dorn T; Rehaklinik Sonnmatt Luzern, Zurzach Care, Lucerne, Switzerland., Ferlazzo E; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Gambardella A; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland., Orlando B; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Iftimovici A; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France., Operto FF; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy., Pulvirenti F; Regional Reference Center for Primary Immune Deficiencies, University Hospital Policlinico Umberto I, Rome, Italy., Kluger G; Research Institute Rehabilitation, Transition, and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria.; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany., Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Source: Epilepsia [Epilepsia] 2025 Mar; Vol. 66 (3), pp. 859-869. Date of Electronic Publication: 2024 Dec 24.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1528-1167
DOI:10.1111/epi.18220